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Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Orpha number ORPHA35123
Synonym(s) 17b-hydroxysteroid dehydrogenase deficiency type 10
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
HSD deficiency
MHBD deficiency
SCHAD deficiency
Prevalence Unknown
  • X-linked recessive
Age of onset Neonatal/infancy
  • E71.3
  • C0342785
  • C1845517
  • C536080
MedDRA -
  • 237998000


Short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency is a recently discovered mitochondrial fatty acid oxidation disorder, with less than 10 cases described to date, characterized by hyperinsulinemic hypoglycemia with seizures and in one case fulminant hepatic failure, that responds well to diazoxide and is caused by a mutation in the HADH gene.

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