KEGG   DISEASE: Disorders of mitochondrial fatty-acid oxidation
Entry
H00525                      Disease                                

Name
Disorders of mitochondrial fatty-acid oxidation
  Subgroup
MCAD deficiency [DS:H00488]
SCAD deficiency [DS:H01980]
VLCAD deficiency [DS:H00392]
MTP deficiency [DS:H01352]
Carnitine palmitoyltransferase I deficiency [DS:H01981]
Carnitine palmitoyltransferase II deficiency [DS:H01982]
Carnitine-acylcarnitine translocase deficiency [DS:H01983]
Systemic primary carnitine deficiency (CDSP) [DS:H01589]
HAD deficiency [DS:H01364]
2,4-Dienoyl-CoA reductase deficiency [DS:H01929]
ACAD9 deficiency [DS:H02085]
  Supergrp
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]
Description
Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects in the fatty acid metabolic pathway. The symptoms and treatment vary between different FAODs.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00525  Disorders of mitochondrial fatty-acid oxidation
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
     H00525  Disorders of mitochondrial fatty-acid oxidation
Pathway
hsa00071  Fatty acid degradation
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00766  HADHB deficiency in beta-oxidation
N00767  HADH deficiency in beta-oxidation
N00768  ACADM deficiency in beta-oxidation
N00769  ACADVL deficiency in beta-oxidation
N00770  ACADS deficiency in beta-oxidation
N00771  CPT2 deficiency in beta-oxidation
N00772  CPT1A deficiency in beta-oxidation
N00775  HADHA deficiency in beta-oxidation
N00813  Mutation-inactivated SLC22A5 to transport of carnitine
N00815  Mutation-inactivated SLC25A20 to transport of L-palmitoylcarnitine
Gene
(MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
Other DBs
ICD-11: 5C52.01
ICD-10: E71.3
MeSH: D008052
OMIM: 201450 201470 610006 201475 609016 609015 608836 600649 255110 255120 212138 212140 231530 616034 611126
Reference
  Authors
Kompare M, Rizzo WB
  Title
Mitochondrial fatty-acid oxidation disorders.
  Journal
Semin Pediatr Neurol 15:140-9 (2008)
DOI:10.1016/j.spen.2008.05.008
Reference
  Authors
Wilcken B
  Title
Fatty acid oxidation disorders: outcome and long-term prognosis.
  Journal
J Inherit Metab Dis 33:501-6 (2010)
DOI:10.1007/s10545-009-9001-1
Reference
  Authors
Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E
  Title
Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.
  Journal
J Inherit Metab Dis 33:495-500 (2010)
DOI:10.1007/s10545-009-9000-2
Reference
PMID:17347912 (Marker)
  Authors
Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF
  Title
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
  Journal
J Inherit Metab Dis 30:507-14 (2007)
DOI:10.1007/s10545-007-0543-9
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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