Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

HADH, TPP1, CFHR1, IGHG3

Drugs

Dasiglucagon, Exendin-(9-39), Glucagon

Dasiglucagon, Exendin-(9-39), Glucagon, Glucagon analogue linked to a human immunoglobulin Fc fragment, Glucagon infusion, Recombinant human monoclonal antibody to insulin receptor

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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.

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.