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

ORPHA71212
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
Neonatal
ICD-10
  • E71.3
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

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.

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

Expert reviewer(s)

  • Dr Simon OLPIN

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Detailed information

Review article
  • EN (2011)
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