KEGG   DISEASE: Carnitine-acylcarnitine translocase deficiency
Entry
H01983                      Disease                                
Name
Carnitine-acylcarnitine translocase 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-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.
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
     H01983  Carnitine-acylcarnitine translocase deficiency
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06020  beta-Oxidation in mitochondria
   H01983  Carnitine-acylcarnitine translocase deficiency
Network
nt06020 beta-Oxidation in mitochondria
Gene
SLC25A20 [HSA:788] [KO:K15109]
Other DBs
ICD-11: 5C52.00
MeSH: C562812
OMIM: 212138
Reference
PMID:24088670
  Authors
Fukushima T, Kaneoka H, Yasuno T, Sasaguri Y, Tokuyasu T, Tokoro K, Fukao T, Saito T
  Title
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
  Journal
J Hum Genet 58:788-93 (2013)
DOI:10.1038/jhg.2013.103
Reference
PMID:16602102
  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
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