KEGG   DISEASE: SCAD deficiency
Entry
H01980                      Disease                                

Name
SCAD deficiency;
Short-chain acyl-CoA dehydrogenase deficiency;
ACADS deficiency
  Supergrp
Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]
Description
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty acid oxidation disorder, caused by mutations in the ACADS gene. The clinical features range from hypoglycemia and vomiting to hypotonia and seizures accompanied with developmental delay.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01980  SCAD 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
     H01980  SCAD deficiency
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00770  ACADS deficiency in beta-oxidation
Gene
ACADS [HSA:35] [KO:K00248]
Other DBs
ICD-11: 5C52.01
ICD-10: E71.3
MeSH: C537596
OMIM: 201470
Reference
  Authors
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
  Title
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
  Journal
Pediatr Res 49:18-23 (2001)
DOI:10.1203/00006450-200101000-00008
Reference
  Authors
Gregersen N, Andresen BS, Corydon MJ, Corydon TJ, Olsen RK, Bolund L, Bross P
  Title
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
  Journal
Hum Mutat 18:169-89 (2001)
DOI:10.1002/humu.1174
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