systemic primary carnitine deficiency
Sign in to saveAlso known as CTD, SPCD, systemic primary carnitine deficiency disease, carnitine transporter deficiency, carnitine uptake defect, deficiency of plasma-membrane carnitine transporter, primary carnitine deficiency, renal carnitine transport defect (disorder), renal carnitine transport defect
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
In the Vinony graph
Vinony's link graph records 38 inbound references to systemic primary carnitine deficiency, and connects out to beta oxidation, Japan and Taiwan.
It is catalogued under topics including Autosomal recessive disorders, Fatty-acid metabolism disorders and Hepatology.
Vinony links it to 8 Wikipedia language editions.
Research
329 papers- Functional and molecular studies in primary carnitine deficiency.Human mutation · 2017
- Primary Carnitine Deficiency.1993
- Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Orphanet journal of rare diseases · 2012
- Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.Pediatrics international : official journal of the Japan Pediatric Society · 2025
- Systemic carnitine deficiency.The New England journal of medicine · 1980
via PubMed
Wikidata facts
Show 6 more facts
- health specialty
- endocrinology
- genetic association
- SLC22A5
- NCI Thesaurus ID
- C98864
- exact match
- www.orpha.net/ORDO/Orphanet_158
- on focus list of Wikimedia project
- WikiProject Medicine
- ICD-9-CM
- 277.82
Sources (6)
via Wikidata · CC0