Entry Name 3-Hydroxyacyl-CoA dehydrogenase deficiency;
Supergrp Disorders of mitochondrial fatty-acid oxidation [DS:
H00525 ]
Secondary hyperammonemia [DS:
H01400 ]
Mitochondrial disease [DS:
H01427 ]
Description 3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid oxidation disorders that has been the most recently described only in a few patients. The clinical phenotype of most patients that have been described is recurrent hypoglycemia associated with hyperinsulinism.
Category Inherited metabolic disorder, Mitochondrial disease
Brite Human diseases in ICD-11 classification [BR:br08403 ]br08402 ] BRITE hierarchy Pathway Network nt06020 beta-Oxidation in mitochondria
Gene Other DBs Reference Authors Yang SY, He XY, Schulz H
Title 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Journal Reference Authors Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L
Title Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
Journal Reference Authors Vilarinho L, Marques JS, Rocha H, Ramos A, Lopes L, Narayan SB, Bennett MJ
Title Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening.
Journal LinkDB All DBs
