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Journal articles on the topic 'Treatment of creatine transporter deficiency'

Author: Grafiati

Published: 4 June 2021

Last updated: 17 February 2022

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1

Kurosawa, Yuko, Ton J. DeGrauw, Diana M. Lindquist, Victor M. Blanco, Gail J. Pyne-Geithman, Takiko Daikoku, James B. Chambers, Stephen C. Benoit, and Joseph F. Clark. "Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency." Journal of Clinical Investigation 122, no. 8 (August 1, 2012): 2837–46. http://dx.doi.org/10.1172/jci59373.

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2

Bruun, Theodora U. J., Sarah Sidky, Anabela O. Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, et al. "Treatment outcome of creatine transporter deficiency: international retrospective cohort study." Metabolic Brain Disease 33, no. 3 (February 12, 2018): 875–84. http://dx.doi.org/10.1007/s11011-018-0197-3.

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3

Adriano, Enrico, Maurizio Gulino, Maria Arkel, Annalisa Salis, Gianluca Damonte, Nara Liessi, Enrico Millo, Patrizia Garbati, and Maurizio Balestrino. "Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency." Neuroscience Letters 665 (February 2018): 217–23. http://dx.doi.org/10.1016/j.neulet.2017.12.020.

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4

Baroncelli, Laura, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, and Tommaso Pizzorusso. "A novel mouse model of creatine transporter deficiency." F1000Research 3 (September 29, 2014): 228. http://dx.doi.org/10.12688/f1000research.5369.1.

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Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and behavioral disturbances, language and speech impairment ( OMIM #300352).CCDS1 is still an untreatable pathology that can be very invalidating for patients and caregivers. Only two murine models of CCDS1, one of which is an ubiquitous knockout mouse, are currently available to study the possible mechanisms underlying the pathologic phenotype of CCDS1 and to develop therapeutic strategies. Given the importance of validating phenotypes and efficacy of promising treatments in more than one mouse model we have generated a new murine model of CCDS1 obtained by ubiquitous deletion of 5-7 exons in the Slc6a8 gene. We showed a remarkable Cr depletion in the murine brain tissues and cognitive defects, thus resembling the key features of human CCDS1. These results confirm that CCDS1 can be well modeled in mice. This CrT−/y murine model will provide a new tool for increasing the relevance of preclinical studies to the human disease.

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Baroncelli, Laura, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Francesca Zonfrillo, et al. "A novel mouse model of creatine transporter deficiency." F1000Research 3 (January 22, 2015): 228. http://dx.doi.org/10.12688/f1000research.5369.2.

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Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and behavioral disturbances, language and speech impairment ( OMIM #300352).CCDS1 is still an untreatable pathology that can be very invalidating for patients and caregivers. Only two murine models of CCDS1, one of which is an ubiquitous knockout mouse, are currently available to study the possible mechanisms underlying the pathologic phenotype of CCDS1 and to develop therapeutic strategies. Given the importance of validating phenotypes and efficacy of promising treatments in more than one mouse model we have generated a new murine model of CCDS1 obtained by ubiquitous deletion of 5-7 exons in the Slc6a8 gene. We showed a remarkable Cr depletion in the murine brain tissues and cognitive defects, thus resembling the key features of human CCDS1. These results confirm that CCDS1 can be well modeled in mice. This CrT−/y murine model will provide a new tool for increasing the relevance of preclinical studies to the human disease.

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6

Trotier-Faurion, Alexandra, Catherine Passirani, Jérôme Béjaud, Sophie Dézard, Vassili Valayannopoulos, Fréderic Taran, Pascale de Lonlay, Jean-Pierre Benoit, and Aloïse Mabondzo. "Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency." Nanomedicine 10, no. 2 (January 2015): 185–91. http://dx.doi.org/10.2217/nnm.13.205.

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7

Schjelderup, Jack, Sigrun Hope, Christian Vatshelle, and Clara D. M. van Karnebeek. "Treatment experience in two adults with creatinfe transporter deficiency." Molecular Genetics and Metabolism Reports 27 (June 2021): 100731. http://dx.doi.org/10.1016/j.ymgmr.2021.100731.

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8

Jaggumantri, Sravan, Mary Dunbar, Vanessa Edgar, Cristina Mignone, Theresa Newlove, Rajavel Elango, Jean Paul Collet, Michael Sargent, Sylvia Stockler-Ipsiroglu, and Clara D. M. van Karnebeek. "Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements." Pediatric Neurology 53, no. 4 (October 2015): 360–63. http://dx.doi.org/10.1016/j.pediatrneurol.2015.05.006.

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9

Di Biase, Stefano, Xiaoya Ma, Xi Wang, Jiaji Yu, Yu-Chen Wang, Drake J. Smith, Yang Zhou, et al. "Creatine uptake regulates CD8 T cell antitumor immunity." Journal of Experimental Medicine 216, no. 12 (October 18, 2019): 2869–82. http://dx.doi.org/10.1084/jem.20182044.

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T cells demand massive energy to combat cancer; however, the metabolic regulators controlling antitumor T cell immunity have just begun to be unveiled. When studying nutrient usage of tumor-infiltrating immune cells in mice, we detected a sharp increase of the expression of a CrT (Slc6a8) gene, which encodes a surface transporter controlling the uptake of creatine into a cell. Using CrT knockout mice, we showed that creatine uptake deficiency severely impaired antitumor T cell immunity. Supplementing creatine to WT mice significantly suppressed tumor growth in multiple mouse tumor models, and the combination of creatine supplementation with a PD-1/PD-L1 blockade treatment showed synergistic tumor suppression efficacy. We further demonstrated that creatine acts as a “molecular battery” conserving bioenergy to power T cell activities. Therefore, our results have identified creatine as an important metabolic regulator controlling antitumor T cell immunity, underscoring the potential of creatine supplementation to improve T cell–based cancer immunotherapies.

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10

Trotier-Faurion, Alexandra, Sophie Dézard, Frédéric Taran, Vassili Valayannopoulos, Pascale de Lonlay, and Aloïse Mabondzo. "Synthesis and Biological Evaluation of New Creatine Fatty Esters Revealed Dodecyl Creatine Ester as a Promising Drug Candidate for the Treatment of the Creatine Transporter Deficiency." Journal of Medicinal Chemistry 56, no. 12 (June 7, 2013): 5173–81. http://dx.doi.org/10.1021/jm400545n.

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11

Dunbar, Mary, Sravan Jaggumantri, Michael Sargent, Sylvia Stockler-Ipsiroglu, and Clara D. M. van Karnebeek. "Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases." Molecular Genetics and Metabolism 112, no. 4 (August 2014): 259–74. http://dx.doi.org/10.1016/j.ymgme.2014.05.011.

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12

Ghirardini, Elsa, Francesco Calugi, Giulia Sagona, Federica Di Vetta, Martina Palma, Roberta Battini, Giovanni Cioni, Tommaso Pizzorusso, and Laura Baroncelli. "The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development." Genes 12, no. 8 (July 24, 2021): 1123. http://dx.doi.org/10.3390/genes12081123.

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Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and patients need lifelong assistance. Thus, the research of novel intervention strategies is a major scientific challenge. Animal models are an excellent tool to dissect the disease pathogenetic mechanisms and drive the preclinical development of therapeutics. This review illustrates the current knowledge about Cr metabolism and CTD clinical aspects, with a focus on mainstay diagnostic and therapeutic options. Then, we discuss the rodent models of CTD characterized in the last decade, comparing the phenotypes expressed within clinically relevant domains and the timeline of symptom development. This analysis highlights that animals with the ubiquitous deletion/mutation of SLC6A8 genes well recapitulate the early onset and the complex pathological phenotype of the human condition. Thus, they should represent the preferred model for preclinical efficacy studies. On the other hand, brain- and cell-specific conditional mutants are ideal for understanding the basis of CTD at a cellular and molecular level. Finally, we explain how CTD models might provide novel insight about the pathogenesis of other disorders, including cancer.

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13

William, Batten, Pierre Germaine, Guilder Laura, and Hogg Sarah. "P19 Clinical pearl: pharmaceutical management of siblings with guanidinoacetate methyltransferase (gamt) deficiency." Archives of Disease in Childhood 103, no. 2 (January 19, 2018): e1.24-e1. http://dx.doi.org/10.1136/archdischild-2017-314584.30.

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SituationPatient A and B are 9 and 4 year old siblings with developmental delay and in particular; speech delay, seizures and behavioural difficulties. They were found to have GAMT deficiency due to a heterozygous pathogenic GAMT splicing mutation c.327G>A and pathogenic GAMT nonsense mutation c.522G>A (Trp174Ter). Patient A and B were referred to the regional metabolic team for further input. Management of this rare disorder involves combination treatment with specialist medications and a protein restricted diet.1,2BackgroundGAMT deficiency is an inherited disorder of creatine synthesis.1,2 Approximately 110 patients have been diagnosed world wide.1 Main clinical features are intellectual disability with speech and language delay, behavioural problems and epilepsy.1,2 Creatine is an important energy source formuscle and brain. The enzyme arginine: amidinotransferase (AGAT) synthesises guanidinoacetate (GAA) using arginine and glycineas substrates.1,2 The enzyme GAMT in the liver then catalyses the last step of creatine synthesis converting GAA into creatine.1,2 Creatine is transported via the bloodstream to other organs where it is utilised.1 In GAMT deficiency there is a deficiency of creatine and an excess of GAA causing neurotoxicity. The sibling’s history and presentation were consistent with GAMT deficiency and plasma GAA levels done before starting ornithine were very elevated confirming the genetic finding.TreatmentCreatine supplementation restores deficient levels. L-Ornithine competitively inhibits the enzyme AGAT reducing GAA synthesis. An arginine restricted diet and sodium benzoate deprives the pathway of arginine and glycine respectively reducing GAA synthesis.1,2Outcome6 months after starting treatment with creatine (400 mg/kg/day) and l-ornithine (400 mg/kg/day), a significant clinical improvement has been observed. Patient A has had improvement in memory recall, speech and sleeping, and her seizures have reduced from daily to occasionally. Her plasma GAA levels have decreased from 13.3 to 6.5 micromoles/L (0.8–3.1 micromole/L).A bigger improvement has been seen for patient B, probably explained by an earlier age of intervention. Seizures have stopped, with normalisation of his electroencephalogram. His behaviour, attention span and speech have improved, with an ability to form sentences and a widening vocabulary. He is able to walk up the stairs rather than crawl or bottom-shuffle. His plasma GAA has decreased from 14.7 to 8.0 micromoles/L.Doses of l-ornithine and creatine have been increased further to 600 mg/kg/day.Both have had brain magnetic resonance spectroscopy on treatment showing there is no creatine deficiency.Lessons learntManagement of GAMT deficiency requires multidisciplinary input with pharmacy playing an important role advising on treatment, dosing and formulation, and sourcing ornithine and creatine of pharmaceutical grade that is palatable for children. As with very rare disorders, recommendations for treatment are based on case reports and expert opinion. However, there is an emerging pattern that combined treatment started early has the best outcome with normal development sometimes being reported. The siblings struggled with the diet so pharmaceutical intervention is the mainstay of management. If GAA levels fail to fall and/or remain low then sodium benzoate may be introduced.1ReferencesSaudubray JM, Baumgartner MR, Walter J. Inborn metabolic diseases: Diagnosis and treatment 2016;6th ed. Berlin: Springer.Stockler-Ipsiroglu S, Van Karnebeek C, Longo N, et al. Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Molecular Genetics and Metabolism2014;111:16–25.

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14

Hu, Qing-Hua, Chuang Wang, Jian-Mei Li, Dong-Mei Zhang, and Ling-Dong Kong. "Allopurinol, rutin, and quercetin attenuate hyperuricemia and renal dysfunction in rats induced by fructose intake: renal organic ion transporter involvement." American Journal of Physiology-Renal Physiology 297, no. 4 (October 2009): F1080—F1091. http://dx.doi.org/10.1152/ajprenal.90767.2008.

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Fructose consumption has been recently related to an epidemic of metabolic syndrome, and hyperuricemia plays a pathogenic role in fructose-induced metabolic syndrome. Fructose-fed rats showed hyperuricemia and renal dysfunction with reductions of the urinary uric acid/creatinine ratio and fractional excretion of uric acid (FEur), as well as other features of metabolic syndrome. Lowering serum uric acid levels with allopurinol, rutin, and quercetin increased the urinary uric acid/creatinine ratio and FEurand attenuated other fructose-induced metabolic abnormalities in rats, demonstrating that hyperuricemia contributed to the deficiency of renal uric acid excretion in this model. Furthermore, we found that fructose upregulated the expression levels of rSLC2A9v2 and renal-specific transporter (rRST), downregulated the expression levels of organic anion transporters (rOAT1 and rUAT) and organic cation transporters (rOCT1 and rOCT2), with the regulators prostaglandin E2(PGE2) elevation and nitric oxide (NO) reduction in rat kidney. Allopurinol, rutin, and quercetin reversed dysregulations of these transporters with PGE2reduction and NO elevation in the kidney of fructose-fed rats. These results suggested that dysregulations of renal rSLC2A9v2, rRST, rOAT1, rUAT, rOCT1, and rOCT2 contributed to fructose-induced hyperuricemia and renal dysfunction. Therefore, these renal transporters may represent novel therapeutic targets for the treatment of hyperuricemia and renal dysfunction in fructose-induced metabolic syndrome.

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15

Thurm, Audrey, Daniel Himelstein, Precilla DʼSouza, Owen Rennert, Susanqi Jiang, Damilola Olatunji, Nicola Longo, et al. "Creatine Transporter Deficiency." Journal of Developmental & Behavioral Pediatrics 37, no. 4 (May 2016): 322–26. http://dx.doi.org/10.1097/dbp.0000000000000299.

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16

Solanki, Malvika H., Prodyot K. Chatterjee, Xiangying Xue, Madhu Gupta, Ivy Rosales, Michael M. Yeboah, Nina Kohn, and Christine N. Metz. "Magnesium protects against cisplatin-induced acute kidney injury without compromising cisplatin-mediated killing of an ovarian tumor xenograft in mice." American Journal of Physiology-Renal Physiology 309, no. 1 (July 1, 2015): F35—F47. http://dx.doi.org/10.1152/ajprenal.00096.2015.

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Cisplatin, a commonly used chemotherapeutic for ovarian and other cancers, leads to hypomagnesemia in most patients and causes acute kidney injury (AKI) in 25–30% of patients. Previously, we showed that magnesium deficiency worsens cisplatin-induced AKI and magnesium replacement during cisplatin treatment protects against cisplatin-mediated AKI in non-tumor-bearing mice (Solanki MH, Chatterjee PK, Gupta M, Xue X, Plagov A, Metz MH, Mintz R, Singhal PC, Metz CN. Am J Physiol Renal Physiol 307: F369–F384, 2014). This study investigates the role of magnesium in cisplatin-induced AKI using a human ovarian tumor (A2780) xenograft model in mice and the effect of magnesium status on tumor growth and the chemotherapeutic efficacy of cisplatin in vivo. Tumor progression was unaffected by magnesium status in saline-treated mice. Cisplatin treatment reduced tumor growth in all mice, irrespective of magnesium status. In fact, cisplatin-treated magnesium-supplemented mice had reduced tumor growth after 3 wk compared with cisplatin-treated controls. While magnesium status did not interfere with tumor killing by cisplatin, it significantly affected renal function following cisplatin. Cisplatin-induced AKI was enhanced by magnesium deficiency, as evidenced by increased blood urea nitrogen, creatinine, and other markers of renal damage. This was accompanied by reduced renal mRNA expression of the cisplatin efflux transporter Abcc6. These effects were significantly reversed by magnesium replacement. On the contrary, magnesium status did not affect the mRNA expression of cisplatin uptake or efflux transporters by the tumors in vivo. Finally, magnesium deficiency enhanced platinum accumulation in the kidneys and renal epithelial cells, but not in the A2780 tumor cells. These findings demonstrate the renoprotective role of magnesium during cisplatin AKI, without compromising the chemotherapeutic efficacy of cisplatin in an ovarian tumor-bearing mouse model.

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17

deGrauw, T. J., G. S. Salomons, K. M. Cecil, G. Chuck, A. Newmeyer, M. B. Schapiro, and C. Jakobs. "Congenital Creatine Transporter Deficiency." Neuropediatrics 33, no. 5 (October 2002): 232–38. http://dx.doi.org/10.1055/s-2002-36743.

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18

Schiaffino, Maria C., Carlo Bellini, Laura Costabello, Ubaldo Caruso, Cornelis Jakobs, Gajja S. Salomons, and Eugenio Bonioli. "X-linked creatine transporter deficiency." Neurogenetics 6, no. 3 (August 6, 2005): 165–68. http://dx.doi.org/10.1007/s10048-005-0002-4.

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19

Miller, Judith S., Rebecca P. Thomas, Amanda Bennett, Simona Bianconi, Aleksandra Bruchey, Robert J. Davis, Can Ficicioglu, Whitney Guthrie, Forbes D. Porter, and Audrey Thurm. "Early Indicators of Creatine Transporter Deficiency." Journal of Pediatrics 206 (March 2019): 283–85. http://dx.doi.org/10.1016/j.jpeds.2018.11.008.

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20

Ardon, Orly, Cristina Amat di San Filippo, Gajja S. Salomons, and Nicola Longo. "Creatine transporter deficiency in two half-brothers." American Journal of Medical Genetics Part A 152A, no. 8 (July 2, 2010): 1979–83. http://dx.doi.org/10.1002/ajmg.a.33551.

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21

Fons, Carmen, Ángela Sempere, Francesc X. Sanmartí, Ángela Arias, Pilar Póo, Mercedes Pineda, Antonia Ribes, et al. "Epilepsy spectrum in cerebral creatine transporter deficiency." Epilepsia 50, no. 9 (September 2009): 2168–70. http://dx.doi.org/10.1111/j.1528-1167.2009.02142.x.

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22

Cecil, Kim M., Gajja S. Salomons, William S. Ball, Brenda Wong, Gail Chuck, Nanda M. Verhoeven, Cornelis Jakobs, and Ton J. DeGrauw. "Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?" Annals of Neurology 49, no. 3 (2001): 401–4. http://dx.doi.org/10.1002/ana.79.

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23

Yıldız, Yılmaz, Rahşan Göçmen, Ahmet Yaramış, Turgay Coşkun, and Göknur Haliloğlu. "Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder." Pediatrics 146, no. 5 (October 22, 2020): e20193460. http://dx.doi.org/10.1542/peds.2019-3460.

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24

Marques., JorgeSales. "IS GLYCINE SUPPLEMENTATION USEFUL IN CREATINE TRANSPORTER DEFICIENCY?" International Journal of Advanced Research 4, no. 8 (August 31, 2016): 396–400. http://dx.doi.org/10.21474/ijar01/1228.

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25

Ardon, O., M. Procter, R. Mao, N. Longo, Y. E. Landau, A. Shilon-Hadass, L. V. Gabis, et al. "Creatine transporter deficiency: Novel mutations and functional studies." Molecular Genetics and Metabolism Reports 8 (September 2016): 20–23. http://dx.doi.org/10.1016/j.ymgmr.2016.06.005.

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Fons, C., A. Arias, A. Sempere, P. Póo, M. Pineda, A. Mas, A. López-Sala, et al. "Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency." Molecular Genetics and Metabolism 99, no. 3 (March 2010): 296–99. http://dx.doi.org/10.1016/j.ymgme.2009.10.186.

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Salomons, Gajja S., Silvy J. M. van Dooren, Nanda M. Verhoeven, Kim M. Cecil, William S. Ball, Ton J. Degrauw, and Cornelis Jakobs. "X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome." American Journal of Human Genetics 68, no. 6 (June 2001): 1497–500. http://dx.doi.org/10.1086/320595.

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Bizzi, Alberto, Marianna Bugiani, Gajja S. Salomons, Donald H. Hunneman, Isabella Moroni, Margherita Estienne, Ugo Danesi, Cornelis Jakobs, and Graziella Uziel. "X-linked creatine deficiency syndrome: A novel mutation in creatine transporter geneSLC6A8." Annals of Neurology 52, no. 2 (July 23, 2002): 227–31. http://dx.doi.org/10.1002/ana.10246.

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van de Kamp, Jiddeke M., Grazia M. Mancini, and Gajja S. Salomons. "X-linked creatine transporter deficiency: clinical aspects and pathophysiology." Journal of Inherited Metabolic Disease 37, no. 5 (May 1, 2014): 715–33. http://dx.doi.org/10.1007/s10545-014-9713-8.

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Chen, Hong-Ru, Xiaohui Zhang-Brotzge, Ton J. DeGrauw, Diana M. Lindquist, Siming Wang, and Chia-Yi Kuan. "Creatine Transporter (CrT) Deficiency Impairs Brain Energetics Under Stress." Biochimica et Biophysica Acta (BBA) - Bioenergetics 1859 (September 2018): e74. http://dx.doi.org/10.1016/j.bbabio.2018.09.222.

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Ullio-Gamboa, Gabriela, Kenea C. Udobi, Sophie Dezard, Marla K. Perna, Keila N. Miles, Narciso Costa, Frédéric Taran, et al. "Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency." Nanomedicine 14, no. 12 (June 2019): 1579–93. http://dx.doi.org/10.2217/nnm-2019-0059.

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El-Kasaby, Ali, Ameya Kasture, Florian Koban, Matej Hotka, Hafiz M. M. Asjad, Helmut Kubista, Michael Freissmuth, and Sonja Sucic. "Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome." Neuropharmacology 161 (December 2019): 107572. http://dx.doi.org/10.1016/j.neuropharm.2019.03.015.

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Koirala, Mahesh, and Emil Alexov. "Computational Analysis of Missense Mutations in Creatine Transporter Protein Associated with Creatine Deficiency Syndrome." Biophysical Journal 118, no. 3 (February 2020): 197a. http://dx.doi.org/10.1016/j.bpj.2019.11.1190.

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van de Kamp, Jiddeke M., Cornelis Jakobs, K. Michael Gibson, and Gajja S. Salomons. "New insights into creatine transporter deficiency: the importance of recycling creatine in the brain." Journal of Inherited Metabolic Disease 36, no. 1 (September 12, 2012): 155–56. http://dx.doi.org/10.1007/s10545-012-9537-3.

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Lewandowska, Zuzanna, Barbara Steinborn, Włodzimierz Borkowski, Elżbieta Chlebowska, and Katarzyna Karmelita-Katulska. "SCL6A8 mutation in female patient resulting in creatine transporter deficiency." Child Neurology 27, no. 55 (2018): 69–76. http://dx.doi.org/10.20966/chn.2018.55.434.

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Hathaway, Samantha C., Michael Friez, Kimberly Limbo, Colette Parker, Gajja S. Salomons, Jerry Vockley, Tim Wood, and Omar A. Abdul-Rahman. "X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder." Journal of Child Neurology 25, no. 8 (May 25, 2010): 1009–12. http://dx.doi.org/10.1177/0883073809352109.

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37

Aydin, Halil Ibrahim. "Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder." Indian Pediatrics 55, no. 1 (January 2018): 67–68. http://dx.doi.org/10.1007/s13312-018-1232-5.

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38

Sempere, A., C. Fons, A. Arias, P. Rodríguez-Pombo, R. Colomer, B. Merinero, P. Alcaide, et al. "Creatine transporter deficiency in two adult patients with static encephalopathy." Journal of Inherited Metabolic Disease 32, S1 (March 25, 2009): 91–96. http://dx.doi.org/10.1007/s10545-009-1083-2.

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Sucic, Sonja. "4-Phenylbutyrate corrects folding-deficient creatine transporter-1 variants associated with the creatine deficiency syndrome." Intrinsic Activity 6, Suppl.. 1 (September 20, 2018): A3.7. http://dx.doi.org/10.25006/ia.6.s1-a3.7.

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Perna, Marla K., Amanda N. Kokenge, Keila N. Miles, Kenea C. Udobi, Joseph F. Clark, Gail J. Pyne-Geithman, Zaza Khuchua, and Matthew R. Skelton. "Creatine transporter deficiency leads to increased whole body and cellular metabolism." Amino Acids 48, no. 8 (July 11, 2016): 2057–65. http://dx.doi.org/10.1007/s00726-016-2291-3.

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Hautman, Emily R., Amanda N. Kokenge, Kenea C. Udobi, Michael T. Williams, Charles V. Vorhees, and Matthew R. Skelton. "Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits." Journal of Inherited Metabolic Disease 37, no. 1 (May 29, 2013): 63–68. http://dx.doi.org/10.1007/s10545-013-9619-x.

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42

Evins, A., T. Cimms, S. Blair, J. Whyte, M. Paulich, E. Hribal, A. Estrada, and C. Evans. "PRO39 Caregiver Perspectives on the Humanistic Burden of Creatine Transporter Deficiency." Value in Health 24 (June 2021): S204. http://dx.doi.org/10.1016/j.jval.2021.04.1024.

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43

Newmeyer, A., T. deGrauw, J. Clark, G. Chuck, and G. Salomons. "Screening of Male Patients with Autism Spectrum Disorder for Creatine Transporter Deficiency." Neuropediatrics 38, no. 6 (December 2007): 310–12. http://dx.doi.org/10.1055/s-2008-1065353.

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van de Kamp, J. M., O. T. Betsalel, S. Mercimek-Mahmutoglu, L. Abulhoul, S. Grünewald, I. Anselm, H. Azzouz, et al. "Phenotype and genotype in 101 males with X-linked creatine transporter deficiency." Journal of Medical Genetics 50, no. 7 (May 3, 2013): 463–72. http://dx.doi.org/10.1136/jmedgenet-2013-101658.

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Garbati, Patrizia, Enrico Adriano, Annalisa Salis, Silvia Ravera, Gianluca Damonte, Enrico Millo, and Maurizio Balestrino. "Effects of Amide Creatine Derivatives in Brain Hippocampal Slices, and Their Possible Usefulness for Curing Creatine Transporter Deficiency." Neurochemical Research 39, no. 1 (November 12, 2013): 37–45. http://dx.doi.org/10.1007/s11064-013-1188-8.

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Sironi, Chiara, Francesca Bodega, Luciano Zocchi, and Cristina Porta. "Effects of Creatine Treatment on Jejunal Phenotypes in a Rat Model of Acidosis." Antioxidants 8, no. 7 (July 17, 2019): 225. http://dx.doi.org/10.3390/antiox8070225.

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Abstract:

We investigated the effects of creatine treatment on jejunal phenotypes in a rat model of oxidative stress induced by acidosis. In particular, the activities of some antioxidant enzymes (superoxide dismutase, glutathione peroxidase, catalase, and glutathione reductase), the level of lipid peroxidation, the expression of heat shock proteins (HSP70), and the expression of the major carriers of the cells (Na+/K+-ATPase, sodium-glucose Transporter 1—SGLT1, and glucose transporter 2—GLUT2) were measured under control and chronic acidosis conditions. Creatine did not affect the activity of antioxidant enzymes in either the control or acidosis groups, except for catalase, for which the activity was reduced in both conditions. Creatine did not change the lipid peroxidation level or HSP70 expression. Finally, creatine stimulated (Na+/K+)-ATPase expression under both control and chronic acidosis conditions. Chronic acidosis caused reductions in the expression levels of GLUT2 and SGLT1. GLUT2 reduction was abolished by creatine, while the presence of creatine did not induce any strengthening effect on the expression of SGLT1 in either the control or chronic acidosis groups. These results indicate that creatine has antioxidant properties that are realized through direct interaction of the molecule with reactive oxygen species. Moreover, the administration of creatine seems to determine a functional strengthening of the tissue, making it more resistant to acidosis.

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Uemura, Tatsuki, Shingo Ito, Yusuke Ohta, Masanori Tachikawa, Takahito Wada, Tetsuya Terasaki, and Sumio Ohtsuki. "Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization." Biological & Pharmaceutical Bulletin 40, no. 1 (2017): 49–55. http://dx.doi.org/10.1248/bpb.b16-00582.

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Funston, LA, D. Peake, S. O'Sullivan, and P. Flynn. "P275 – 1996 Creatine transporter deficiency – a rare cause of developmental delay and seizures." European Journal of Paediatric Neurology 17 (September 2013): S129. http://dx.doi.org/10.1016/s1090-3798(13)70454-9.

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Skelton, Matthew R., Tori L. Schaefer, Devon L. Graham, Ton J. deGrauw, Joseph F. Clark, Michael T. Williams, and Charles V. Vorhees. "Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency." PLoS ONE 6, no. 1 (January 13, 2011): e16187. http://dx.doi.org/10.1371/journal.pone.0016187.

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Adriano, E., P. Garbati, G. Damonte, A. Salis, A. Armirotti, and M. Balestrino. "Searching for a therapy of creatine transporter deficiency: some effects of creatine ethyl ester in brain slices in vitro." Neuroscience 199 (December 2011): 386–93. http://dx.doi.org/10.1016/j.neuroscience.2011.09.018.

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