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
External Links
Disease Ontology
DOID:14365
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
34 ACADM acyl-CoA dehydrogenase medium chain
1374 CPT1A carnitine palmitoyltransferase 1A
1375 CPT1B carnitine palmitoyltransferase 1B
1376 CPT2 carnitine palmitoyltransferase 2
1604 CD55 CD55 molecule (Cromer blood group)
3612 IMPA1 inositol monophosphatase 1
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
4153 MBL2 mannose binding lectin 2
6319 SCD stearoyl-CoA desaturase
6441 SFTPD surfactant protein D

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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: August 19, 2024