H01364 | |
H number | H01364 |
Name | 3-Hydroxyacyl-CoA dehydrogenase deficiency; HADH deficiency; SCHAD deficiency |
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 |
Network | nt06020(H01364) beta-Oxidation in mitochondria |
Gene | HADH [HSA:3033] [KO:K00022] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C52.01 ICD-10: E71.3 MeSH: C535310 OMIM: 231530 |
Reference | PMID:16176262 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 FEBS J 272:4874-83 (2005) DOI:10.1111/j.1742-4658.2005.04911.x PMID:21347589 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 J Inherit Metab Dis 34:835-42 (2011) DOI:10.1007/s10545-011-9287-7 PMID:22579592 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 Mol Genet Metab 106:277-80 (2012) DOI:10.1016/j.ymgme.2012.04.005 |