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

Simple search

(*) mandatory field


Other search option(s)

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Synonym(s) HADH deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to HADH deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • E71.3
MeSH -
MedDRA -


Disease definition

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.


Less than 10 cases have been reported to date.

Clinical description

The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide.


It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase.

Genetic counseling

The mode of inheritance is autosomal recessive and genetic counseling is possible.

Expert reviewer(s)

  • Dr Simon OLPIN

(*) 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

Detailed information

Summary information
Review article
Get Acrobat Reader
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.