Carnitine metabolism and inborn errors.
Current knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary carnitine deficiency are indicated.
D002331:Carnitine / Q000172:deficiency / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000209:etiology / Q000378:metabolism*; D009132:Muscles / Q000378:metabolism; D013577:Syndrome
D002331:Carnitine