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Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Akagawa S, Fukao T, Akagawa Y, Sasai H, Kohdera U, Kino M, Shigematsu Y, Aoyama Y, Kaneko K. Akagawa S, et al. JIMD Rep. 2017;32:81-85. doi: 10.1007/8904_2016_570. Epub 2016 Jun 16. JIMD Rep. 2017. PMID: 27306202 Free PMC article.
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) is a rare X-linked disorder caused by a mutation in the HSD17B10 gene. Fewer than 30 patients with this disorder have been reported worldwide. The …
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) is a r …
HSD10 disease in a female: A case report and review of literature.
Upadia J, Walano N, Noh GS, Liu J, Li Y, Deputy S, Elliott LT, Wong J, Lee JA, Caylor RC, Andersson HC. Upadia J, et al. JIMD Rep. 2021 Sep 15;62(1):35-43. doi: 10.1002/jmd2.12250. eCollection 2021 Nov. JIMD Rep. 2021. PMID: 34765396 Free PMC article.
HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. ...We report a female patient with HSD10 disease caused by a missense pathogenic variant, Arg147Cys in the HSD17B10 gene. ...
HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. ...We report a fem …
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters PJ, Lace B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Lévesque S, Maranda B. Waters PJ, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e1000. doi: 10.1002/mgg3.1000. Epub 2019 Oct 26. Mol Genet Genomic Med. 2019. PMID: 31654490 Free PMC article.
PATIENTS, METHODS, AND RESULTS: In four unrelated families, we identified index patients with MHBD deficiency, which implied a diagnosis of HSD10MD. Each index patient was independently investigated because of neurological or developmental concerns. ...
PATIENTS, METHODS, AND RESULTS: In four unrelated families, we identified index patients with MHBD deficiency, which implied a …
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.
Richardson A, Berry GT, Garganta C, Abbott MA. Richardson A, et al. JIMD Rep. 2017;32:25-32. doi: 10.1007/8904_2016_547. Epub 2016 Jun 14. JIMD Rep. 2017. PMID: 27295195 Free PMC article.
Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) deficiency (HSD10 disease) is a rare X-linked neurodegenerative condition caused by abnormalities in the HSD17B10 gene. ...Our report highlights clinical features of two patients with the less fulminant phenotype …
Hydroxysteroid 17-beta dehydrogenase type 10 (HSD10) deficiency (HSD10 disease) is a rare X-linked neurodegenerative condition …
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Wohlfarter Y, Eidelpes R, Yu RD, Sailer S, Koch J, Karall D, Scholl-Bürgi S, Amberger A, Hillen HS, Zschocke J, Keller MA. Wohlfarter Y, et al. Cell Mol Life Sci. 2022 Oct 22;79(11):562. doi: 10.1007/s00018-022-04579-6. Cell Mol Life Sci. 2022. PMID: 36271951 Free PMC article.
The human 17beta-hydroxysteroid dehydrogenase 10 (HSD10) is a moonlighting enzyme with at least two structurally and catalytically unrelated functions. HSD10 disease was originally described as a disorder of isoleucine metabolism, but the clinical manifestations wer …
The human 17beta-hydroxysteroid dehydrogenase 10 (HSD10) is a moonlighting enzyme with at least two structurally and catalytically unrelated …
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E, Rossmanith W. Vilardo E, et al. Nucleic Acids Res. 2015 May 26;43(10):5112-9. doi: 10.1093/nar/gkv408. Epub 2015 Apr 29. Nucleic Acids Res. 2015. PMID: 25925575 Free PMC article.
Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disease. We have investigated the effect of selected mutations on SDR5C1's functions. ...
Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegeneration and cardiomyopathy, called HSD10 disea …
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y. Fukao T, et al. J Hum Genet. 2014 Nov;59(11):609-14. doi: 10.1038/jhg.2014.79. Epub 2014 Sep 18. J Hum Genet. 2014. PMID: 25231369
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and <30 cases have been reported worldwide. ...A normal level of the HSD17B10 protein was found by immunoblot analysis but no 2M3HBD enzyme activ …
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and < …
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Stepien KM, McCarthy P, Treacy EP, O'Byrne JJ, Pastores GM. Stepien KM, et al. Mol Genet Metab Rep. 2018 Jun 22;16:31-35. doi: 10.1016/j.ymgmr.2018.06.005. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 30013934 Free PMC article.
BACKGROUND: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine …
BACKGROUND: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-link …
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
Su L, Li X, Lin R, Sheng H, Feng Z, Liu L. Su L, et al. Metab Brain Dis. 2017 Dec;32(6):2063-2071. doi: 10.1007/s11011-017-0097-y. Epub 2017 Sep 5. Metab Brain Dis. 2017. PMID: 28875337
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) and mitochondrial acetoacetyl-CoA thiolase (beta-KT) are two adjacent enzymes for the degradation of isoleucine, thus HSD10 and beta-KT deficiencies are confusing at an early stage because of nearly the same elevation of typical me …
Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) and mitochondrial acetoacetyl-CoA thiolase (beta-KT) are two adjacent enzymes for the degra …
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, Feichtinger RG, Oerum S, Yue WW, Zschocke J. Deutschmann AJ, et al. Hum Mol Genet. 2014 Jul 1;23(13):3618-28. doi: 10.1093/hmg/ddu072. Epub 2014 Feb 18. Hum Mol Genet. 2014. PMID: 24549042
17beta-Hydroxysteroid dehydrogenase type 10 (HSD10) is multifunctional protein coded by the X-chromosomal HSD17B10 gene. Mutations in this gene cause HSD10 disease characterized by progressive neurological abnormalities and cardiomyopathy. ...Our findings indicate t …
17beta-Hydroxysteroid dehydrogenase type 10 (HSD10) is multifunctional protein coded by the X-chromosomal HSD17B10 gene. Mutations in this g …
14 results