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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
| 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 |
Related Glycoprotein
