KEGG   DISEASE: 3-Hydroxyacyl-CoA dehydrogenase deficiency
Entry
H01364                      Disease                                

Name
3-Hydroxyacyl-CoA dehydrogenase deficiency;
HADH deficiency;
SCHAD 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 disorder 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 disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H01364  3-Hydroxyacyl-CoA dehydrogenase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H01364  3-Hydroxyacyl-CoA dehydrogenase deficiency
Pathway
hsa00062  Fatty acid elongation
hsa00071  Fatty acid degradation
hsa00280  Valine, leucine and isoleucine degradation
hsa00310  Lysine degradation
hsa00380  Tryptophan metabolism
hsa00650  Butanoate metabolism
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00767  HADH deficiency in beta-oxidation
Gene
HADH [HSA:3033] [KO:K00022]
Other DBs
ICD-11: 5C52.01
ICD-10: E71.3
MeSH: C535310
OMIM: 231530
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
FEBS J 272:4874-83 (2005)
DOI:10.1111/j.1742-4658.2005.04911.x
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
J Inherit Metab Dis 34:835-42 (2011)
DOI:10.1007/s10545-011-9287-7
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
Mol Genet Metab 106:277-80 (2012)
DOI:10.1016/j.ymgme.2012.04.005
LinkDB

» Japanese version

DBGET integrated database retrieval system