| Metadata | |
|---|---|
| ID | DOID:14365 |
| Name | systemic primary carnitine deficiency disease |
| 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. http://en.wikipedia.org/wiki/Carnitine_deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:21764004 |
| Alternateids |
DOID:1668 |
| Subsets |
NCIthesaurus |
| Synonyms |
carnitine transporter deficiency [EXACT] carnitine uptake defect [EXACT] deficiency of plasma-membrane carnitine transporter [EXACT] primary carnitine deficiency [EXACT] renal carnitine transport defect [EXACT] |
| Parent Relationships |