Search for a rare disease
Other search option(s)
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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.
ORPHA:71212
Classification level: Disorder- Synonym(s):
- Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase 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: 231530 609975
- UMLS: C1291230
- MeSH: -
- GARD: 2819 9870
- MedDRA: -
Summary
Epidemiology
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.
Etiology
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.
Additional information