KEGG   DISEASE: Carnitine palmitoyltransferase II deficiencyHelp
Entry
H01982                      Disease                                

Name
Carnitine palmitoyltransferase II deficiency
  Supergrp
Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]
Description
Carnitine palmitoyltransferase II (CPT2) deficiency is an inherited disorder of mitochondrial long-chain fatty-acid oxidation. Three distinct clinical manifestations of CPT2 deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01982  Carnitine palmitoyltransferase II 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
     H01982  Carnitine palmitoyltransferase II deficiency
BRITE hierarchy
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00771  CPT2 deficiency in beta-oxidation
Gene
CPT2 [HSA:1376] [KO:K08766]
Other DBs
ICD-11: 5C52.00
ICD-10: E71.4
MeSH: C563462 C563463
OMIM: 600649 608836 255110
Reference
PMID:8651281
  Authors
Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F
  Title
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
  Journal
Am J Hum Genet 58:971-8 (1996)
Reference
  Authors
Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD
  Title
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
  Journal
Mol Genet Metab 94:422-7 (2008)
DOI:10.1016/j.ymgme.2008.05.002

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