Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

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
Inheritance
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10
  • E71.3
OMIM -
UMLS
  • C0342785
  • C1845517
MeSH
  • C536080
MedDRA -
SNOMED CT
  • 237998000

Summary

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.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.