systemic primary carnitine deficiency disease
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://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Carnitine_deficiency ]
Synonyms: renal carnitine transport defect, primary carnitine deficiency, carnitine transporter deficiency, carnitine uptake defect, deficiency of plasma-membrane carnitine transporter
OMIM mapping confirmed by DO. [SN].