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Thematische Bibliographien / Mucopolysaccharidosis Metabolism Disorders / Zeitschriftenartikel

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Zeitschriftenartikel zum Thema „Mucopolysaccharidosis Metabolism Disorders“

Autor: Grafiati

Veröffentlicht am 4. Juni 2021

Zuletzt aktualisiert am 28. Januar 2023

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1

Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

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Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) an

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Scarpa, Maurizio, Charles Marques Lourenço, and Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.

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Kaczor-Kamińska, Marta, Kamil Kamiński, and Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders." Antioxidants 11, no. 4 (March 30, 2022): 678. http://dx.doi.org/10.3390/antiox11040678.

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Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (NAGLU) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by the massive lysosomal storage of heparan sulfate (HS)—one species of glycosaminoglycans. HS is a sulfur-rich macromolecule, and its accumulation should affect the turnover of total sulfur in cells; according to the studies presented here, it, indeed, does. The lysosomal degradation of HS in cells produces monosaccharides and inorganic sulfate (SO42−). Sulfate

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Baxi, Kalgi, Ashish Jagati, and Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report." Nepal Journal of Dermatology, Venereology & Leprology 18, no. 1 (October 8, 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.

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Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.

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Alden, Tord D., Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R. Harmatz, and Leonardo Vedolin. "Surgical management of neurological manifestations of mucopolysaccharidosis disorders." Molecular Genetics and Metabolism 122 (December 2017): 41–48. http://dx.doi.org/10.1016/j.ymgme.2017.09.011.

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Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

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Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoe

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Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

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Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoe

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Zahoor, Muhammad Yasir, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan, and Munir Ahmad Bhinder. "Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1." Journal of Pediatric Endocrinology and Metabolism 32, no. 11 (November 26, 2019): 1221–27. http://dx.doi.org/10.1515/jpem-2019-0188.

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Abstract Background Mucopolysaccharidosis type 1 (MPS1) is a rare debilitating multisystem lysosomal disorder resulting due to the deficiency of α-L-iduronidase enzyme (IDUA), caused by recessive mutations in the IDUA gene. Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). These large sugar molecules accumulate in lysosomes within cells leading to different systemic complications. The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes. Methods Thirtee

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De Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin, and Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes." Cells 11, no. 1 (December 31, 2021): 129. http://dx.doi.org/10.3390/cells11010129.

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Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation of the undegraded mucopolysaccharides heparan sulfate and dermatan sulfate into lysosomes, with secondary cellular consequences that are still mostly unclarified. Here, we report a new fruit fly RNAi-mediated knockdown model of a IDUA homolog (D-idua) displaying a phenotype mimicking some typical molecular features of Lysosomal Storage Disorders (LS

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Marsden, Deborah, and Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders." Clinical Chemistry 56, no. 7 (July 1, 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.

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Abstract Background: Newborn screening is a state-based public health program established as a means for the early detection and treatment of certain medical conditions to minimize developmental disability and mortality. The program was initiated more than 40 years ago to detect and prevent phenylketonuria. Recent technological advances have expanded the scope of newborn screening to include more than 30 inborn errors of metabolism. Consideration is now being given to inclusion of screening for lysosomal storage disorders (LSDs). Content: Some lysosomal storage disorders (LSDs) express early i

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Singh, Ankur, Rajniti Prasad, and Om Prakash Mishra. "Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis." Journal of Pediatric Genetics 09, no. 02 (January 2, 2020): 087–92. http://dx.doi.org/10.1055/s-0039-3402070.

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AbstractLysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected from the genetic clinic at tertiary care center in Eastern Uttar Pradesh. The data for analysis were collected retrospectively from genetic records from a follow-up clinic. All cases < 18 years of age were analyzed. Cases with LSDs with confirmed enzyme results were enrolled in this study. Clinical profile, screening test res

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Mashima, Ryuichi, Torayuki Okuyama, and Mari Ohira. "Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry." International Journal of Molecular Sciences 21, no. 8 (April 14, 2020): 2704. http://dx.doi.org/10.3390/ijms21082704.

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Lysosomal storage disorders (LSDs) are characterized by an accumulation of various substances, such as sphingolipids, mucopolysaccharides, and oligosaccharides. The LSD enzymes responsible for the catabolism are active at acidic pH in the lysosomal compartment. In addition to the classically established lysosomal degradation biochemistry, recent data have suggested that lysosome plays a key role in the autophagy where the fusion of autophagosome and lysosome facilitates the degradation of amino acids. A failure in the lysosomal function leads to a variety of manifestations, including neurovisc

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De Pasquale, Valeria, Marianna Caterino, Michele Costanzo, Roberta Fedele, Margherita Ruoppolo, and Luigi Michele Pavone. "Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism." International Journal of Molecular Sciences 21, no. 12 (June 12, 2020): 4211. http://dx.doi.org/10.3390/ijms21124211.

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Mucopolysaccharidoses (MPSs) are inherited disorders of the glycosaminoglycan (GAG) metabolism. The defective digestion of GAGs within the intralysosomal compartment of affected patients leads to a broad spectrum of clinical manifestations ranging from cardiovascular disease to neurological impairment. The molecular mechanisms underlying the progression of the disease downstream of the genetic mutation of genes encoding for lysosomal enzymes still remain unclear. Here, we applied a targeted metabolomic approach to a mouse model of PS IIIB, using a platform dedicated to the diagnosis of inherit

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Eremushkin, M. A., D. I. Otvetchikova, I. N. Otvetchikov, and V. A. Kolyshenkov. "Analysis of the Existing Treatment Methods of Musculoskeletal Disorders in Adult Patients with Mucopolysaccharidosis (Literature Review)." Bulletin of Restorative Medicine 99, no. 5 (October 29, 2020): 101–6. http://dx.doi.org/10.38025/2078-1962-2020-99-5-101-106.

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Need for optimal treatment approaches for adult patients with mucopolysaccharidosis is an urgent problem today. This happened dueto the fact that previously patients with MS rarely lived to adulthood and were observed mainly by pediatricians. But with the evolution of medical technologies and the emergence of modern methods of treatment and rehabilitation of such patients, the number of adult patients with MS is increasing. Clinicians have more and more questions in choosing a strategy for managing each specific clinical case. Currently, a comprehensive approach to treatment allows for the use

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Gaffke, Lidia, Zuzanna Szczudło, Magdalena Podlacha, Zuzanna Cyske, Estera Rintz, Jagoda Mantej, Karolina Krzelowska, Grzegorz Węgrzyn, and Karolina Pierzynowska. "Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies." Metabolic Brain Disease 37, no. 2 (December 20, 2021): 299–310. http://dx.doi.org/10.1007/s11011-021-00892-4.

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AbstractMucopolysaccharidoses (MPS) are a group of diseases caused by mutations resulting in deficiencies of lysosomal enzymes which lead to the accumulation of partially undegraded glycosaminoglycans (GAG). This phenomenon causes severe and chronic disturbances in the functioning of the organism, and leads to premature death. The metabolic defects affect also functions of the brain in most MPS types (except types IV, VI, and IX). The variety of symptoms, as well as the ineffectiveness of GAG-lowering therapies, question the early theory that GAG storage is the only cause of these diseases. As

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Moskot, Marta, Joanna Jakóbkiewicz-Banecka, Anna Kloska, Ewa Piotrowska, Magdalena Narajczyk, and Magdalena Gabig-Cimińska. "The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis." International Journal of Molecular Sciences 20, no. 2 (January 14, 2019): 304. http://dx.doi.org/10.3390/ijms20020304.

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Obstacles to effective therapies for mucopolysaccharidoses (MPSs) determine the need for continuous studies in order to enhance therapeutic strategies. Dimethyl sulfoxide (DMSO) is frequently utilised as a solvent in biological studies, and as a vehicle for drug therapy and the in vivo administration of water-insoluble substances. In the light of the uncertainty on the mechanisms of DMSO impact on metabolism of glycosaminoglycans (GAGs) pathologically accumulated in MPSs, in this work, we made an attempt to investigate and resolve the question of the nature of GAG level modulation by DMSO, the

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Oliveira, Allan Chiaratti de, Amélia Miyashiro Nunes dos Santos, Ana Maria Martins, and Vânia D'Almeida. "Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause." Sao Paulo Medical Journal 119, no. 5 (September 6, 2001): 160–64. http://dx.doi.org/10.1590/s1516-31802001000500002.

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CONTEXT: Inborn Errors of Metabolism are hereditary affections resulting from incompetence in enzymatic reactions of intermediary metabolism. At present, several hundred hereditary metabolic disturbances are known, many of which correspond to severe life-threatening disorders. OBJECTIVE: The early detection of carriers has motivated the screening for these disturbances among newborns at the Neonatal Unit of Hospital São Paulo, in an attempt to initiate support treatment, when available, before clinical manifestations become evident. DESIGN: Prospective study of risk patients. SETTING: Laborato

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Gul, Rutaba, Sabika Firasat, Mulazim Hussain, Muhammad Tufail, Waheed Ahmad, and Kiran Afshan. "Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease." Genetika 53, no. 3 (2021): 1017–29. http://dx.doi.org/10.2298/gensr2103017g.

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Lysosomal storage disorders (LSDs) are a large group of inborn errors of metabolism each caused by genetic mutations of a particular lysosomal protein encoding gene. These inherited conditions are characterized by lysosomal dysfunction with wide variety of organ impact sometimes organ failure with growing age. Neurological complications in LSD cases range from severe neurodegenerations in 70% cases to mild symptoms or absence of neuropathy in others. Each LSD is monogenic but heterogeneous from a molecular standpoint with a large number of mutations described in the respective gene. Some mutat

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Stepien, Karolina M., Abigail Methley, Ramona Naicker, Kinza Noman, and Cliff Chen. "Implications for neuropsychology assessments in adult mucopolysaccharidosis: A systematic review to inform service development in a large tertiary lysosomal disorders centre." Molecular Genetics and Metabolism 135, no. 2 (February 2022): S116. http://dx.doi.org/10.1016/j.ymgme.2021.11.308.

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Shukla, Praveen, Christopher C. Dvorak, Janel Long-Boyle, and Sandhya Kharbanda. "Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients." International Journal of Molecular Sciences 21, no. 16 (August 6, 2020): 5634. http://dx.doi.org/10.3390/ijms21165634.

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Busulfan is an alkylating agent routinely used in conditioning regimens prior to allogeneic hematopoietic cell transplantation (HCT) for various nonmalignant disorders, including inborn errors of metabolism. The combination of model-based dosing and therapeutic drug monitoring (TDM) of busulfan pharmacokinetics (PK) to a lower exposure target has the potential to reduce the regimen-related toxicity while opening marrow niches sufficient for engraftment in diseases such as mucopolysaccharidosis type I (MPS I). We present four cases of the severe form of MPS I or Hurler syndrome, demonstrating s

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Nakamura-Utsunomiya, Akari. "Bone Biomarkers in Mucopolysaccharidoses." International Journal of Molecular Sciences 22, no. 23 (November 23, 2021): 12651. http://dx.doi.org/10.3390/ijms222312651.

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The accumulation of glycosaminoglycans (GAGs) in bone and cartilage leads to progressive damage in cartilage that, in turn, reduces bone growth by the destruction of the growth plate, incomplete ossification, and growth imbalance. The mechanisms of pathophysiology related to bone metabolism in mucopolysaccharidoses (MPS) include impaired chondrocyte function and the failure of endochondral ossification, which leads to the release of inflammatory cytokines via the activation of Toll-like receptors by GAGs. Although improvements in the daily living of patients with MPS have been achieved with en

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Rai, Shalu, Deepankar Misra, Akansha Misra, Ankit Jain, Ashish Verma, Dimple Grover, and Ayesha Haris. "A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI – a case report." Journal of Medicine and Life 15, no. 4 (April 2022): 579–86. http://dx.doi.org/10.25122/jml-2021-0288.

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Mucopolysaccharidosis VI is a genetic disorder affecting multiple organs with sundry clinical presentations. The main etiological factor reflects the disturbances in mucopolysaccharide metabolism leading to deposition of acid mucopolysaccharide in various tissues. The pathognomonic features of the disease include a large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of the skull, and long anteroposterior dimension with unerupted dentition, dentigerous cyst-like follicles, condylar defects, and gingival hyperplasia. An 18-year-old boy with Marotea

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Amendum, Paige, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik, et al. "Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders." Diagnostics 11, no. 9 (August 28, 2021): 1563. http://dx.doi.org/10.3390/diagnostics11091563.

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Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme required to break down one or more GAG is deficient. In a previous study, we found elevation of GAGs in a subset of patients without MPS. In the current study, we aim to investigate serum GAG levels in patients with conditions beyond MPS. In our investigated samples, the largest group of patients had a clinical diagnosis of viral or non-viral en

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Moores, C., J. G. Rogers, I. M. Mckenzie, and T. C. K. Brown. "Anaesthesia for Children with Mucopolysaccharidoses." Anaesthesia and Intensive Care 24, no. 4 (August 1996): 459–63. http://dx.doi.org/10.1177/0310057x9602400408.

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The mucopolysaccharidoses are a group of inherited disorders of metabolism, with varying clinical manifestations. A number of them present anaesthetic difficulties. This paper presents a summary table of the syndromes and reviews our experience over ten years with patients with these diagnoses. The clinical presentations, anaesthetic management, and complications are described. The effect of age and diagnosis on airway difficulties was studied. There were 31 patients, 28 of whom required anaesthesia, on a total of 99 occasions, for 115 procedures. The patients with Hunter, Hurler and Maroteaux

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Çakar, Nafiye Emel, and Pınar Yilmazbaş. "Cases of inborn errors of metabolism diagnosed in children with autism." Ideggyógyászati szemle 74, no. 1-2 (2021): 67–72. http://dx.doi.org/10.18071/isz.74.0067.

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Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients we

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Leistner, Sandra, and Roberto Giugliani. "A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses." Genetics and Molecular Biology 21, no. 1 (March 1998): 163–67. http://dx.doi.org/10.1590/s1415-47571998000100028.

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Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a re

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Bhuiyan, AKM Motiur Rahman, Maftahul Jannat, Md Zilan Miah Sarker, Mohammad Tanvir Islam, and Amit Roy Chowdhury. "A 16-year-old Girl with Morquio Syndrome: A Case Report." BIRDEM Medical Journal 8, no. 3 (September 10, 2018): 266–69. http://dx.doi.org/10.3329/birdem.v8i3.38137.

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Morquio syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism, also called mucopolysaccharidosis type IV. We report a case of Morquio syndrome in a16-year- old girl of normal intelligence, who got herself admitted in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. The patient had short stature and skeletal deformity and she belonged to a non-consanguineous marriage of her parents. She was diagnosed on the basis of clinical features, typical radiological changes and positive urinary mucopolysaccharide screening test.Birdem Med J 2018; 8(3): 266-269

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Węsierska, Magdalena, Anna Kloska, Diego L. Medina, Joanna Jakóbkiewicz-Banecka, Magdalena Gabig-Cimińska, Marta Radzińska, Marta Moskot, and Marcelina Malinowska. "Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I." International Journal of Molecular Sciences 23, no. 3 (January 19, 2022): 1058. http://dx.doi.org/10.3390/ijms23031058.

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Flavonoids are investigated as therapeutics for mucopolysaccharidosis, a metabolic disorder with impaired glycosaminoglycan degradation. Here we determined the effects of genistein and kaempferol, used alone or in combination, on cellular response and gene expression in a mucopolysaccharidosis type I model. We assessed the cell cycle, viability, proliferation, subcellular localization of the translocation factor EB (TFEB), number and distribution of lysosomes, and glycosaminoglycan synthesis after exposure to flavonoids. Global gene expression was analysed using DNA microarray and quantitative

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Albano, Lilian M. J., Sofia S. M. M. Sugayama, Débora R. Bertola, Carlos E. F. Andrade, Cláudia Y. Utagawa, Flávia Puppi, Helena B. Nader, et al. "Clinical and laboratorial study of 19 cases of mucopolysaccharidoses." Revista do Hospital das Clínicas 55, no. 6 (December 2000): 213–18. http://dx.doi.org/10.1590/s0041-87812000000600004.

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The mucopolysaccharidoses (MPS) are a heterogeneous group of inborn errors of lysosomal glycosaminoglycan (GAG) metabolism. The importance of this group of disorders among the inborn errors of metabolism led us to report 19 cases. METHOD: We performed clinical, radiological, and biochemical evaluations of the suspected patients, which allowed us to establish a definite diagnosis in 19 cases. RESULTS: Not all patients showed increased GAG levels in urine; enzyme assays should be performed in all cases with strong clinical suspicion. The diagnosis was made on average at the age of 48 months, and

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Sheikh, Sadaf Saleem, Dipak Kumar Yadav, and Ayesha Saeed. "Case Report: Hurler syndrome (Mucopolysaccharidosis Type 1) in a young female patient." F1000Research 9 (May 15, 2020): 367. http://dx.doi.org/10.12688/f1000research.23532.1.

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Hurler syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism. Here, we present the case of a young female patient who presented with features of respiratory distress. In addition, the patient had gingival hypertrophy, spaced dentition, misaligned eruptive permanent dentition, microdontia, coarse facial features, low set ears, depressed nasal bridge, distended abdomen, pectus carinatum, umbilical hernia and J-shaped Sella Turcica on an X-ray of the skull. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made. The patient was kept on ventilator support

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Mungai, L. N. Wainaina, C. M. Njeru, L. A. Nyamai, and M. Maina. "Mucopolysaccharidosis Type II: A Kenyan Case Series." International Journal of Endocrinology 2021 (December 22, 2021): 1–4. http://dx.doi.org/10.1155/2021/2328402.

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Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing. This is due to the accumulation of glycosaminoglycans in body tissues leading to organ failure. Since the laboratories in Kenya do not screen for metabolic diseases, there is the likelihood of assumption that these patients do not exist. These first cases were referred from the eastern part of Kenya where the majority of inhabitants are from the same ethni

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Draïss, Ghizlane, Adil Fouad, Nourddine Rada, Ouafa Hocar, Naima Fdil, and Mohamed Bouskraoui. "Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots." Open Pediatric Medicine Journal 9, no. 1 (January 31, 2019): 1–4. http://dx.doi.org/10.2174/1874309901909010001.

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Introduction: GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder. Hypothesis: Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1

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De Ponti, Giada, Samantha Donsante, Marta Frigeni, Alice Pievani, Alessandro Corsi, Maria Ester Bernardo, Mara Riminucci, and Marta Serafini. "MPSI Manifestations and Treatment Outcome: Skeletal Focus." International Journal of Molecular Sciences 23, no. 19 (September 22, 2022): 11168. http://dx.doi.org/10.3390/ijms231911168.

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Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L-iduronidase enzyme. The deficiency of this enzyme causes systemic accumulation of glycosaminoglycans (GAGs). Although disease manifestations are typically not apparent at birth, they can present early in life, are progressive, and include a wide spectrum of phenotypic findings. Among these, the storage of GAGs within the lysosomes disrupts cell function and metabolism in the cartilage, thus impairing normal bone development and

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Torres, Danielle de Araujo, Anneliese Lopes Barth, Mariana Pires de Mello Valente, Paulo Pires de Mello, and Dafne Dain Gandelman Horovitz. "Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study." Diagnostics 9, no. 4 (November 13, 2019): 187. http://dx.doi.org/10.3390/diagnostics9040187.

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Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism with an aggressive and usually fatal course. Therefore, early treatment is essential because the involvement of head and neck structures is almost always present in MPS. Our study aimed to retrospectively assess—via a chart review and a survey of caregivers—the history of ear, nose and throat (ENT) symptoms, the number of otolaryngology visits prior to diagnosis, and whether otolaryngologists diagnosed the disease in a cohort of MPS patients followed at an academic medical center. Twenty-three patients were evaluated. Age a

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Melit, Lorena Elena, Oana Marginean, Carmen Duicu, Cristina Campean, and Maria Oana Marginean. "A RARE CASE OF HUNTER SYNDROME – CASE REPORT." Romanian Journal of Pediatrics 64, no. 1 (March 31, 2015): 38–41. http://dx.doi.org/10.37897/rjp.2015.1.8.

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Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders within the larger family of lysosomal diseases. MPSs disorders are caused by a deficiency in the activity of a specific lysosomal enzyme required for the degradation of glycosaminoglycans (GAGs). MPS type II, also called Hunter syndrome consists in a deficiency of an enzyme, iduronate-2-sulphatase. We present a rare case of Hunter syndrome with atypical presentation. It is a case about a boy of 2.7 year old who presented to the Paediatric Clinic with symptoms of a respiratory tract infection and a history of frequent ear infect

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Zubaida, Bibi, Hajira Batool, Huma Arshad Cheema, Nadia Waheed, and Muhammad Naeem. "Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome)." Human Heredity 84, no. 6 (2019): 279–86. http://dx.doi.org/10.1159/000510065.

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<b><i>Introduction:</i></b> Mucopolysaccharidosis type II (MPS-II) or Hunter syndrome is a rare X-linked recessive disorder caused by genetic lesions in the IDS gene, encoding the iduronate-2-sulfatase (IDS) enzyme, disrupting the metabolism of certain sulfate components of the extracellular matrix. Thus, the undegraded components, also known as glycosaminoglycans, accumulate in multiple tissues resulting in multisystemic abnormalities. <b><i>Objective:</i></b> To uncover causative genetic lesions in probands of three unrelated Pakistani families

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Xia, Haibin, Brian Anderson, Qinwen Mao, and Beverly L. Davidson. "Recombinant Human Adenovirus: Targeting to the Human Transferrin Receptor Improves Gene Transfer to Brain Microcapillary Endothelium." Journal of Virology 74, no. 23 (December 1, 2000): 11359–66. http://dx.doi.org/10.1128/jvi.74.23.11359-11366.2000.

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ABSTRACT Some inborn errors of metabolism due to deficiencies of soluble lysosomal enzymes cause global neurodegenerative disease. Representative examples include the infantile and late infantile forms of the ceroid lipofuscinoses (CLN1 or CLN2 deficiency, respectively) and mucopolysaccharidoses type VII (MPS VII), a deficiency of β-glucuronidase. Treatment of the central nervous system component of these disorders will require widespread protein or enzyme replacement, either through dissemination of the protein or through dissemination of a gene encoding it. We hypothesize that transduction o

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De Risi, Maria, Michele Tufano, Filomena Grazia Alvino, Maria Grazia Ferraro, Giulia Torromino, Ylenia Gigante, Jlenia Monfregola, et al. "Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders." Nature Communications 12, no. 1 (June 9, 2021). http://dx.doi.org/10.1038/s41467-021-23903-5.

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AbstractLysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders, dementia is preceded by severe and therapy-resistant autistic-like symptoms of unknown cause. Using mouse and cellular models of MPS-IIIA, we discovered that autistic-like behaviours are due to increased proliferation of mesencephalic dopamine neurons originating during embryogenesis, which is not due to lysosomal dysfunction, but to

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Conijn, Thirsa, Lotte Haverman, Frits A. Wijburg, and Carlijn De Roos. "Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study." Orphanet Journal of Rare Diseases 16, no. 1 (March 10, 2021). http://dx.doi.org/10.1186/s13023-021-01768-7.

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AbstractParents of children with severe inborn errors of metabolism frequently face stressful events related to the disease of their child and are consequently at high risk for developing parental posttraumatic stress disorder (PTSD). Assessment and subsequent treatment of PTSD in these parents is however not common in clinical practice. PTSD can be effectively treated by Eye Movement Desensitization and Reprocessing (EMDR), however no studies have been conducted yet regarding the effect of EMDR for parental PTSD. EMDR is generally offered in multiple weekly sessions which may preclude partici

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Chen, Cliff, Abigail Methley, Ramona Naicker, Stewart Rust, and Karolina M. Stepien. "Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary lysosomal storage disorders centre." Molecular Genetics and Metabolism, December 2022, 106980. http://dx.doi.org/10.1016/j.ymgme.2022.106980.

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Kong, Weijing, Shanshan Wu, Jing Zhang, Cheng Lu, Yingxue Ding, and Yan Meng. "Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis." Journal of Pediatric Endocrinology and Metabolism, July 16, 2021. http://dx.doi.org/10.1515/jpem-2020-0742.

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Abstract Objectives Mucopolysaccharidosis III, an autosomal recessive lysosomal storage disorder, is characterized by progressive mental retardation and behavioral problems. Meta-analysis of global mucopolysaccharidosis III epidemiology, which serves as a fundamental reference for public health decision-making, was not available prior to this study. To provide a systematic review and meta-analysis of birth prevalence of mucopolysaccharidosis III in multiple countries. Methods MEDLINE and EMBASE databases were searched for original research articles on the epidemiology of mucopolysaccharidosis

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Broeders, M., Jgj van Rooij, E. Oussoren, Tjm van Gestel, Ca Smith, Sj Kimber, Rm Verdijk, et al. "Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression." Frontiers in Bioengineering and Biotechnology 10 (December 6, 2022). http://dx.doi.org/10.3389/fbioe.2022.949063.

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Mucopolysaccharidosis type VI (MPS VI) is a metabolic disorder caused by disease-associated variants in the Arylsulfatase B (ARSB) gene, resulting in ARSB enzyme deficiency, lysosomal glycosaminoglycan accumulation, and cartilage and bone pathology. The molecular response to MPS VI that results in cartilage pathology in human patients is largely unknown. Here, we generated a disease model to study the early stages of cartilage pathology in MPS VI. We generated iPSCs from four patients and isogenic controls by inserting the ARSB cDNA in the AAVS1 safe harbor locus using CRISPR/Cas9. Using an op

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Tummolo, Albina, Giacomina Brunetti, Laura Piacente, Antonio Marzollo, Alessandra Biffi, Alberto Burlina, and Maria Felicia Faienza. "Bone Remodeling in a Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy." Endocrine, Metabolic & Immune Disorders - Drug Targets 22 (May 20, 2022). http://dx.doi.org/10.2174/1871530322666220520121839.

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Background: Mucopolysaccharidosis-1H (Hurler syndrome, MPS-1H) is the most severe form of a lysosomal storage disorder (LSD) caused by variants in IDUA, encoding alpha-L-iduronidase (IDUA). MPS-1H is also associated with various degree of skeletal defects due to the accumulation of partially degraded glycosaminoglycans (GAGs) in the lysosomes of connective tissue cells. The efficacy of hematopoietic stem cell transplantation (HSCT) and enzymatic replacement therapy (ERT) on MPS-1H skeletal manifestations are still considered not satisfactory. Case presentation: We report the case of a young gi

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