Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; <i>HADH</i> gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. Disease data Classification Disease Synonyms Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Niedobór SCHAD Hiperinsulinizm spowodowany niedoborem SCHAD Hiperinsulinizm spowodowany niedoborem glutamodehydrogenazy Hiperinsulinizm spowodowany niedoborem dehydrogenazy krótkich łańcuchów 3-hydroksyacylo-CoA Hyperinsulinism due to SCHAD deficiency Hyperinsulinism due to glutamodehydrogenase deficiency SCHAD deficiency Hiperinsulinizm spowodowany niedoborem dehydrogenazy 3-hydroksyacyl-CoA ORPHA code 71212 OMIM code 609975 ICD10 code E71.3 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl