KEGG   DISEASE: MCAD deficiencyHelp
Entry
H00488                      Disease                                

Name
MCAD deficiency;
Medium-chain acyl-CoA dehydrogenase deficiency;
ACADM deficiency
  Supergrp
Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]
Description
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00488  MCAD 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
     H00488  MCAD deficiency
BRITE hierarchy
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00768  ACADM deficiency in beta-oxidation
Gene
ACADM [HSA:34] [KO:K00249]
Other DBs
ICD-11: 5C52.01
ICD-10: E71.3
MeSH: C536038
OMIM: 201450
Reference
PMID:9158144
  Authors
Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N
  Title
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?
  Journal
Hum Mol Genet 6:695-707 (1997)
DOI:10.1093/hmg/6.5.695
Reference
  Authors
Leal J, Ades AE, Wordsworth S, Dezateux C
  Title
Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies.
  Journal
Clin Genet 85:253-9 (2014)
DOI:10.1111/cge.12157
Reference
PMID:15877203 (drug)
  Authors
Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA
  Title
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
  Journal
J Inherit Metab Dis 28:141-52 (2005)
DOI:10.1007/s10545-005-5262-5

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