KEGG DISEASE: Carnitine palmitoyltransferase I deficiency

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]
Disorders of carnitine transport and the carnitine cycle [DS:H02596]

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 disorder, Mitochondrial disease

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
     H01981  Carnitine palmitoyltransferase I deficiency
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06020  beta-Oxidation in mitochondria
   H01981  Carnitine palmitoyltransferase I deficiency

Pathway

Fatty acid degradation

Network

nt06020 beta-Oxidation in mitochondria

Gene

CPT1A [HSA:1374] [KO:K08765]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

LinkDB

» Japanese version

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