KEGG   DISEASE: SBCAD deficiency
Entry
H00375                      Disease                                

Name
SBCAD deficiency;
Short-branched-chain acyl-CoA dehydrogenase deficiency
Description
Short-branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency is an autosomal recessive disorder of isoleucine catabolism, caused by mutations in the ACADSB gene. SBCAD dehydrogenates 2-methylbutyryl-CoA as part of the degradation of isoleucine in mitochondria.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00375  SBCAD deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H00375  SBCAD deficiency
Pathway
hsa00071  Fatty acid degradation
hsa00280  Valine, leucine and isoleucine degradation
hsa01212  Fatty acid metabolism
Network
nt06024  Valine, leucine and isoleucine degradation
  Element
N00858  ACADSB deficiency in isoleucine degradation
Gene
ACADSB [HSA:36] [KO:K09478]
Other DBs
ICD-11: 5C50.E0
ICD-10: E71.1
MeSH: C566487
OMIM: 610006
Reference
  Authors
Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F
  Title
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
  Journal
Am J Hum Genet 67:1095-103 (2000)
DOI:10.1086/303105
Reference
  Authors
Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS
  Title
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
  Journal
Hum Genet 118:680-90 (2006)
DOI:10.1007/s00439-005-0070-4
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