KEGG DISEASE: Disorders of mitochondrial fatty-acid oxidation

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

Fatty acid degradation

Network

nt06020 beta-Oxidation in mitochondria

Element

HADHB deficiency in beta-oxidation

HADH deficiency in beta-oxidation

ACADM deficiency in beta-oxidation

ACADVL deficiency in beta-oxidation

ACADS deficiency in beta-oxidation

CPT2 deficiency in beta-oxidation

CPT1A deficiency in beta-oxidation

HADHA deficiency in beta-oxidation

Mutation-inactivated SLC22A5 to transport of carnitine

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:

ICD-10:

MeSH:

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

LinkDB

» Japanese version

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