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Standards Ontologies Notations
systemic primary carnitine deficiency disease

Summary
Synonym
  • carnitine transporter deficiency
  • carnitine uptake defect
  • deficiency of plasma-membrane carnitine transporter
  • primary carnitine deficiency
  • renal carnitine transport defect
Definition
An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
Super Class
amino acid metabolic disorder
Disease Ontology
DOID:14365
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6584 SLC22A5 solute carrier family 22 member 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
20520 Slc22a5 solute carrier family 22 (organic cation transporter), member 5
56517 Slc22a21 solute carrier family 22 (organic cation transporter), member 21
Displaying 1 entry
Gene ID Gene Symbol Description Source
29726 Slc22a5 solute carrier family 22 member 5
Displaying all 2 entries
Gene ID Gene Symbol Description Source
42890 Orct2 Organic cation transporter 2
42891 Orct Organic cation transporter
Displaying 1 entry
Gene ID Gene Symbol Description Source
172841 45566 Organic cation transporter 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
850462 GIT1 Git1p
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024