KEGG   DISEASE: Carnitine palmitoyltransferase I deficiency
Entry
H01981                      Disease                                

Name
Carnitine palmitoyltransferase I deficiency
  Supergrp
Disorders of mitochondrial fatty-acid oxidation [DS:H00525]
Secondary hyperammonemia [DS:H01400]
Mitochondrial disease [DS:H01427]
Description
Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria. Defects in the liver isoform of CPT1 (CPT1A) present with recurrent attacks of fasting hypoketotic hypoglycemia.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H01981  Carnitine palmitoyltransferase I 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
     H01981  Carnitine palmitoyltransferase I deficiency
Pathway
hsa00071  Fatty acid degradation
hsa01212  Fatty acid metabolism
Network
nt06020  beta-Oxidation in mitochondria
  Element
N00772  CPT1A deficiency in beta-oxidation
Gene
CPT1A [HSA:1374] [KO:K08765]
Other DBs
ICD-11: 5C52.00
ICD-10: E71.4
MeSH: C535588
OMIM: 255120
Reference
  Authors
Longo N, Amat di San Filippo C, Pasquali M
  Title
Disorders of carnitine transport and the carnitine cycle.
  Journal
Am J Med Genet C Semin Med Genet 142C:77-85 (2006)
DOI:10.1002/ajmg.c.30087
Reference
  Authors
Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L
  Title
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
  Journal
Hum Genet 111:179-89 (2002)
DOI:10.1007/s00439-002-0752-0
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