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]
SBCAD deficiency [DS:H00375]
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]
Short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency
  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 fatty acid oxidation disorders.
Category
Inherited metabolic disorder
Brite
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-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06020  beta-Oxidation in mitochondria
   H00525  Disorders of mitochondrial fatty-acid oxidation
Pathway
hsa00071  Fatty acid degradation
Network
nt06020 beta-Oxidation in mitochondria
Gene
(MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(SBCAD) ACADSB [HSA:36] [KO:K09478]
(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]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
Other DBs
ICD-11: 5C52.01
MeSH: D008052
OMIM: 616277
Reference
PMID:18708005
  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
PMID:20049534
  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
PMID:20066495
  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
LinkDB

» Japanese version

DBGET integrated database retrieval system