KEGG   DISEASE: Disorders of carnitine transport and the carnitine cycle
Entry
H02596                      Disease                                
Name
Disorders of carnitine transport and the carnitine cycle
  Subgroup
Carnitine palmitoyltransferase I deficiency [DS:H01981]
Carnitine palmitoyltransferase II deficiency [DS:H01982]
Carnitine-acylcarnitine translocase deficiency [DS:H01983]
Systemic primary carnitine deficiency [DS:H01589]
Description
Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes and transporters included in the process.
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
     H02596  Disorders of carnitine transport and the carnitine cycle
Pathway
hsa01212  Fatty acid metabolism
hsa04714  Thermogenesis
Gene
CPT1A [HSA:1374] [KO:K08765]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC22A5 [HSA:6584] [KO:K08202]
Other DBs
ICD-11: 5C52.00
MeSH: C535588 C535589 C536778
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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