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Journal articles on the topic 'D-bifunctional protein deficiency'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Malin, Maija, Laura Pietikäinen, Kalervo Hiltunen, and Tuomo Glumoff. "Molecular basis of D-bifunctional protein deficiency." Acta Crystallographica Section A Foundations of Crystallography 65, a1 (2009): s142. http://dx.doi.org/10.1107/s0108767309097153.

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2

Dib, Rania, Pascale Karam, Mohamad Mikati, Steven Steinberg, and Mohamad Habbal. "D-bifunctional protein deficiency, a novel mutation." Journal of Pediatric Neurology 06, no. 04 (2015): 357–60. http://dx.doi.org/10.1055/s-0035-1557474.

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3

Möller, G., E. G. van Grunsven, R. J. A. Wanders, and J. Adamski. "Molecular basis of d-bifunctional protein deficiency." Molecular and Cellular Endocrinology 171, no. 1-2 (2001): 61–70. http://dx.doi.org/10.1016/s0303-7207(00)00388-9.

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4

Extraviz-Moreno, A., R. Calvo-Medina, C. Ruiz-García, and J. M. Ramos-Fernández. "Genotype of a severe D-bifunctional protein deficiency." Neurology Perspectives 2, no. 1 (2022): 56–59. http://dx.doi.org/10.1016/j.neurop.2021.10.008.

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5

Berezhanskaya, S. B., A. A. Afonin, N. N. Vostrikh, et al. "A clinical case of a familial form of hereditary metabolic disease from the group of peroxisomal diseases (D-bifunctional protein deficiency) in the neonatal period." Medical Herald of the South of Russia 14, no. 1 (2023): 56–65. http://dx.doi.org/10.21886/2219-8075-2023-14-1-56-65.

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A clinical case of a familial form of peroxisomal D-bifunctional protein (DBP) deficiency (OMIM 261515) with an unfavorable (fatal) outcome caused by a mutation in type 4 17ß-hydroxysteroid dehydrogenase (HSD17B4) with a nucleotide replacement of chr5:118788316G>A in the homozygous state is presented. (D-bifunctional protein deficiency or 17-beta-hydroxysteroid dehydrogenase IV deficiency). Bifunctional protein deficiency is an autosomal recessive birth defect of peroxisomal fatty acid oxidation. The total incidence of morbidity is one case per 50,000 newborns. Most peroxisomal disorders ma

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6

Amor, David J., Ashley P. L. Marsh, Elsdon Storey, et al. "Heterozygous mutations inHSD17B4cause juvenile peroxisomal D-bifunctional protein deficiency." Neurology Genetics 2, no. 6 (2016): e114. http://dx.doi.org/10.1212/nxg.0000000000000114.

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7

Ferdinandusse, Sacha, Simone Denis, Petra A. W. Mooyer, et al. "Clinical and biochemical spectrum of D-bifunctional protein deficiency." Annals of Neurology 59, no. 1 (2005): 92–104. http://dx.doi.org/10.1002/ana.20702.

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8

Konkoľová, J., R. Petrovič, J. Chandoga, et al. "Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia." Gene 568, no. 1 (2015): 61–68. http://dx.doi.org/10.1016/j.gene.2015.05.020.

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9

Buoni, Sabrina, Raffaella Zannolli, Hans Waterham, Ronald Wanders, and Alberto Fois. "D-bifunctional protein deficiency associated with drug resistant infantile spasms." Brain and Development 29, no. 1 (2007): 51–54. http://dx.doi.org/10.1016/j.braindev.2006.06.004.

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10

van Grunsven, E. G., P. A. W. Mooijer, P. Aubourg, and R. J. A. Wanders. "Enoyl-CoA Hydratase Deficiency: Identification of a New Type of D-Bifunctional Protein Deficiency." Human Molecular Genetics 8, no. 8 (1999): 1509–16. http://dx.doi.org/10.1093/hmg/8.8.1509.

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11

Incecik, Faruk, and NeslihanO Mungan. "D-bifunctional protein deficiency: A case report of a Turkish child." Annals of Indian Academy of Neurology 22, no. 1 (2019): 119. http://dx.doi.org/10.4103/aian.aian_273_18.

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12

Mehtälä, Maija L., Marc F. Lensink, Laura P. Pietikäinen, J. Kalervo Hiltunen, and Tuomo Glumoff. "On the Molecular Basis of D-Bifunctional Protein Deficiency Type III." PLoS ONE 8, no. 1 (2013): e53688. http://dx.doi.org/10.1371/journal.pone.0053688.

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13

Schrank, W., C. Lampe, and M. Knuf. "Two Siblings with D-Bifunctional Protein Deficiency and Unusual Clinical Course." Neuropediatrics 48, S 01 (2017): S1—S45. http://dx.doi.org/10.1055/s-0037-1603008.

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14

Ferdinandusse, Sacha, Barbara Finckh, Yvette C. de Hingh, et al. "Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency." Molecular Genetics and Metabolism 79, no. 4 (2003): 281–87. http://dx.doi.org/10.1016/s1096-7192(03)00108-2.

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15

Chapel-Crespo, Cristel C., Ricardo Villalba, Raymond Wang, et al. "Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency." Molecular Genetics and Metabolism Reports 24 (September 2020): 100608. http://dx.doi.org/10.1016/j.ymgmr.2020.100608.

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16

Lines, M. A., R. Jobling, L. Brady, et al. "Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing." Neurology 82, no. 11 (2014): 963–68. http://dx.doi.org/10.1212/wnl.0000000000000219.

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17

Nascimento, João, Céu Mota, Lúcia Lacerda, et al. "D-Bifunctional Protein Deficiency: A Cause of Neonatal Onset Seizures and Hypotonia." Pediatric Neurology 52, no. 5 (2015): 539–43. http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.007.

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18

Ghirri, Paolo, Marco Vuerich, Sacha Ferdinandusse, et al. "A case of d-bifunctional protein deficiency: Clinical, biochemical and molecular investigations." Pediatrics International 53, no. 4 (2011): 583–87. http://dx.doi.org/10.1111/j.1442-200x.2010.03255.x.

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19

Mizumoto, Hiroshi, Ryoko Akashi, Norikatsu Hikita, et al. "Mild case of d-bifunctional protein deficiency associated with novel gene mutations." Pediatrics International 54, no. 2 (2012): 303–4. http://dx.doi.org/10.1111/j.1442-200x.2012.03562.x.

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20

Kasula, Linga Reddy, Manasa Vengaladasu, Paramesh Pandala, Rakesh Kotha, and Alimelu Madireddy. "D-Bifunctional Protein Deficiency in a Neonate, are We Missing?- A Case Series." Asian Journal of Pediatric Research 13, no. 3 (2023): 67–72. http://dx.doi.org/10.9734/ajpr/2023/v13i3282.

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D-bifunctional protein deficiency (D-BP) is an extremely rare autosomal recessive peroxisomal disorder caused by a mutation in the HSD17B4 (5q23.1) gene. In this case series, we report three cases in which clinical signs appeared during the neonatal period. Two cases had early seizures and hypotonia, and another case had breastfeeding jaundice with hypotonia. In our first case, we identified a unique frameshift deletion c.398delC p.Ala133Glu fs.6. One patient died in the fourth month of life, whereas the other two were followed up. We report these cases because they are part of an unusual case

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21

Hsu, Rai-Hseng, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Wang-Tso Lee, and Yin-Hsiu Chien. "Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report." Molecular Genetics and Metabolism Reports 41 (December 2024): 101137. http://dx.doi.org/10.1016/j.ymgmr.2024.101137.

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22

Ferdinandusse, Sacha, Mari S. Ylianttila, Jolein Gloerich, et al. "Mutational Spectrum of d-Bifunctional Protein Deficiency and Structure-Based Genotype-Phenotype Analysis." American Journal of Human Genetics 78, no. 1 (2006): 112–24. http://dx.doi.org/10.1086/498880.

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23

Farkas, Amy, Ruba Al-Ramadhani, Kimberly McDonald, Meredith Jordan, and David Joyner. "Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy." Pediatric Neurology 90 (January 2019): 70–71. http://dx.doi.org/10.1016/j.pediatrneurol.2018.09.001.

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24

Nakano, Kazutoshi, Zhongyi Zhang, Nobuyuki Shimozawa, et al. "D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes." Journal of Pediatrics 139, no. 6 (2001): 865–67. http://dx.doi.org/10.1067/mpd.2001.119170.

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25

Suzuki, Y., Zhongyi Zhang, Nobuyuki Shimozawa, et al. "Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency." Journal of Human Genetics 44, no. 3 (1999): 143–47. http://dx.doi.org/10.1007/s100380050131.

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26

Suzuki, Yasuyuki, Ling Ling Jiang, Masayoshi Souri, et al. "d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder." American Journal of Human Genetics 61, no. 5 (1997): 1153–62. http://dx.doi.org/10.1086/301599.

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27

Wadman, Erin, and Julie Kaplan. "D-bifunctional protein (DBP) deficiency: expanding the phenotype and proposal for Puerto Rican founder allele." Molecular Genetics and Metabolism 132 (April 2021): S28. http://dx.doi.org/10.1016/s1096-7192(21)00127-x.

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28

Gloerich, Jolein, Simone Denis, Elisabeth G. van Grunsven, Georges Dacremont, Ronald J. A. Wanders, and Sacha Ferdinandusse. "A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency." Journal of Lipid Research 44, no. 3 (2002): 640–44. http://dx.doi.org/10.1194/jlr.d200039-jlr200.

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29

Hernández-Caballero, Marta. "Impact of D-bifunctional Protein Deficiency on Telomere Length and Gene Expression in a Child." British Journal of Medicine and Medical Research 3, no. 2 (2013): 351–60. http://dx.doi.org/10.9734/bjmmr/2013/2614.

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30

Khromykh, Alina, Benjamin D. Solomon, Dale L. Bodian, et al. "Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care." Molecular Syndromology 6, no. 3 (2015): 141–46. http://dx.doi.org/10.1159/000433621.

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31

Matsukawa, Takashi, Kagari Mano Koshi, Jun Mitsui, et al. "Slowly progressive d -bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing." Journal of the Neurological Sciences 372 (January 2017): 6–10. http://dx.doi.org/10.1016/j.jns.2016.11.009.

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32

Soorani-Lunsing, R. J., F. J. van Spronsen, I. Stolte-Dijkstra, et al. "Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall." Journal of Inherited Metabolic Disease 28, no. 6 (2005): 1172–74. http://dx.doi.org/10.1007/s10545-005-0149-z.

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33

van Grunsven, E. G., E. van Berkel, L. Ijlst, et al. "Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency." Proceedings of the National Academy of Sciences 95, no. 5 (1998): 2128–33. http://dx.doi.org/10.1073/pnas.95.5.2128.

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34

Ognean, Maria Livia, Ioana Bianca Mutică, Gabriela Adriana Vișa, et al. "D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature." International Journal of Molecular Sciences 25, no. 9 (2024): 4924. http://dx.doi.org/10.3390/ijms25094924.

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D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor. We report a D-BPD case and comment on challenges faced in diagnosis based on a narrative literature review. An overview of Romania’s fi

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35

Olculu, Cemile Busra, Erdem Simsek, Sanem Yilmaz, Ayca Aykut, Asude Durmaz, and Hasan Tekgul. "A Rare Cause of Developmental Epileptic Encephalopathy: D-Bifunctional Protein Deficiency with a Novel Pathogenic Variant." Journal of Pediatric Neurosciences 18, no. 3 (2023): 233–36. http://dx.doi.org/10.4103/jpn.jpn_221_21.

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Abstract Peroxisomal disorders are rare causes of severe neonatal encephalopathies. Here we report a two-month old infant with refractory neonatal seizures evaluated with first-step metabolic screening in the neonatal intensive care unit. The screening did not indicate the inborn error of metabolism. In a series of electroencephalography (EEG) studies, multifocal epileptic discharges and electroclinic seizures were observed, suggesting epileptic encephalopathy. The analysis of plasma very-long-chain fatty acids indicated a peroxisomal disorder. Then a next-generation DNA sequencing panel of ep

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36

Une, M., M. Konishi, Y. Suzuki, et al. "Bile Acid Profiles in a Peroxisomal D-3-Hydroxyacyl-CoA Dehydratase/D-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency." Journal of Biochemistry 122, no. 3 (1997): 655–58. http://dx.doi.org/10.1093/oxfordjournals.jbchem.a021803.

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37

Langius, F., N. Wolf, and B. T. Poll-The. "P22.9 Congenital CMV infection and d-bifunctional protein deficiency; a rare cause of deafness and epilepsy." European Journal of Paediatric Neurology 15 (May 2011): S121. http://dx.doi.org/10.1016/s1090-3798(11)70423-8.

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38

Khan, Aneal, Xing-Chang Wei, Floyd F. Snyder, Jean K. Mah, Hans Waterham, and Ronald J. A. Wanders. "Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging." Neuroradiology 52, no. 12 (2010): 1163–66. http://dx.doi.org/10.1007/s00234-010-0768-4.

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39

Yamamoto, Akiyo, Shinobu Fukumura, Yumi Habata, et al. "Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review." Child Neurology Open 8 (January 2021): 2329048X2110486. http://dx.doi.org/10.1177/2329048x211048613.

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D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. We report a 6-year-old boy with moderate hearing loss who presented with developmental regression. Brain magnetic resonance imaging demonstrated progressive leukodystrophy. However, very long chain fatty acids (VLCFAs) in the plasma were at normal levels. Whole-exome sequencing revealed compound heterozygous variants in HSD17B4 (NM_000414.3:c.[350A > T];[394C > T], p.[[Asp117Val]];[[Arg132Trp]]

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40

Clayton, P. T. "Clinical consequences of defects in peroxisomal β-oxidation". Biochemical Society Transactions 29, № 2 (2001): 298–305. http://dx.doi.org/10.1042/bst0290298.

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The disorders of peroxisomal β-oxidation, which have been well characterised at the molecular level, include defects of acyl-CoA oxidase, defects of the D-bifunctional protein (D-BP) (including specific defects of its enoyl-CoA hydratase and D-3-hydroxyacyl-CoA dehydrogenase components), defects of the very-long-chain fatty acid (VLCFA)-CoA importer [X-linked adrenoleukodystrophy (ALD)] and α-methylacyl-CoA racemase deficiency. A survey of the clinical consequences of these defects indicates that defects in the acyl-CoA oxidase and D-BP can produce neonatal hypotonia, seizures in early infancy

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41

Landau, Yuval E., Gali Heimer, Ortal Barel, et al. "Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease." Molecular Genetics and Metabolism Reports 25 (December 2020): 100631. http://dx.doi.org/10.1016/j.ymgmr.2020.100631.

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42

Itoh, Masayuki, Yasuyuki Suzuki, Shinjiro Akaboshi, Zhongyi Zhang, Shinichi Miyabara, and Sachio Takashima. "Developmental and pathological expression of peroxisomal enzymes: their relationship of d-bifunctional protein deficiency and Zellweger syndrome." Brain Research 858, no. 1 (2000): 40–47. http://dx.doi.org/10.1016/s0006-8993(99)02423-3.

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43

Paton, B. C., P. B. Solly, P. V. Nelson, A. N. Pollard, P. C. Sharp, and M. J. Fietz. "Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency." Prenatal Diagnosis 22, no. 1 (2002): 38–41. http://dx.doi.org/10.1002/pd.233.

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44

Grønborg, Sabine, Ralph Krätzner, Juliane Spiegler, et al. "Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma." American Journal of Medical Genetics Part A 152A, no. 11 (2010): 2845–49. http://dx.doi.org/10.1002/ajmg.a.33677.

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45

Werner, Kelly M., Allison J. Cox, Emily Qian, et al. "D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia." American Journal of Medical Genetics Part A 188, no. 1 (2021): 357–63. http://dx.doi.org/10.1002/ajmg.a.62520.

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46

Vreken, P., H. Rusch, S. Ferdinandusse, L. van Lint, and Wanders RJA. "Analysis of serum pristanic and phytanic acid stereoisomers in Zellweger syndrome, Refsum disease, D-bifunctional protein deficiency and alpha-methylacyl-CoA recemase deficiency." Biochemical Society Transactions 29, no. 1 (2001): A26. http://dx.doi.org/10.1042/bst029a026c.

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47

Arora, Veronica, Sunita Bijarnia-Mahay, Sudhisha Dubey, and Renu Saxena. "Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders." Molecular Syndromology 11, no. 5-6 (2020): 309–14. http://dx.doi.org/10.1159/000510480.

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Peroxisomal disorders are a heterogeneous group of inborn errors of metabolism that result in impaired function of the peroxisome. Within this, single enzyme deficiencies are known to cause a constellation of symptoms not very different from the peroxisome biogenesis defects. Thus, there is a need to identify features that differentiate the two. We present 3 molecularly confirmed families: 1 with Acyl CoA oxidase deficiency and 2 with D-bifunctional protein deficiency. The clinical, biochemical, and radiological features of these patients have been discussed. We attempt to highlight the overla

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48

Savage, Lane, Stacie D. Adams, Kiely James, et al. "Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis." Molecular Case Studies 6, no. 6 (2020): a005496. http://dx.doi.org/10.1101/mcs.a005496.

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49

Ferdinandusse, S., E. G. van Grunsven, W. Oostheim, et al. "Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein." American Journal of Human Genetics 70, no. 6 (2002): 1589–93. http://dx.doi.org/10.1086/340970.

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50

Matsuda, Yukiko, Hiroyuki Morino, Ryosuke Miyamoto, et al. "Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia." Neurology Genetics 6, no. 1 (2020): e396. http://dx.doi.org/10.1212/nxg.0000000000000396.

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ObjectiveTo determine the genetic underpinnings of slowly progressive spinocerebellar ataxia, autosomal recessive (SCAR), we performed exome analysis and examined the relationship between clinical severity and functional change induced by the mutation.MethodsHomozygosity fingerprinting and exome sequencing were performed to identify causative mutations in 2 consanguineous families. We assessed the expression of D-bifunctional protein (DBP) and the amount of dimerized DBP in fibroblasts by immunoblot and quantitative reverse transcription PCR. The pathogenicity of the mutation was evaluated usi

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