ORPHA:71212

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

Also called Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency, Hyperinsulinism due to SCHAD deficiency, Hyperinsulinism due to glutamodehydrogenase deficiency, SCHAD deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Europe)

Rarity class

<1 / 1 000 000

ORPHA:71212 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.