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HSD10 disease, neonatal type

Disease definition

HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.


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