[Systemic deficiency of carnitine].
Authors present a case of carnitine systemic deficiency. Relevant signs being severe muscular hypotonia, fat infiltration of the liver and muscles, as well as frequent episodes of severe hypoglycemia. Infrequent occurrence of this syndrome (this being the first case in our country) and therapeutic implications involved, justify this comment. Evolution is favourable if the correct treatment is applied.
D001706:Biopsy; D002331:Carnitine / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000473:pathology; D008099:Liver / Q000473:pathology
D002331:Carnitine
Deficiencia sistémica de carnitina.