Orphanet: HSD10 disease

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HSD10 disease

Disease definition

HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.


Classification level: Disorder
  • Synonym(s):
    • 2-methyl-3-hydroxybutyric aciduria
    • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
    • HSD10 deficiency
    • MHBD deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal, Childhood, Infancy
  • ICD-10: E72.8
  • OMIM: 300438
  • UMLS: C1845517
  • MeSH: -
  • GARD: 10716
  • MedDRA: -
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