CLINICAL AND BIOCHEMICAL FINDINGS IN A SPANISH BOY WITH PRIMARY CARNITINE DEFICIENCY

Citation
P. Briones et al., CLINICAL AND BIOCHEMICAL FINDINGS IN A SPANISH BOY WITH PRIMARY CARNITINE DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 237-240
Citations number
9
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Endocrynology & Metabolism
ISSN journal
0141-8955
Volume
18
Issue
2
Year of publication
1995
Pages
237 - 240
Database
ISI
SICI code
0141-8955(1995)18:2<237:CABFIA>2.0.ZU;2-W
Abstract
Carnitine transport defect (CTD) is a recessively inherited disorder i n the intracellular uptake of carnitine that impairs carnitine transpo rt in muscle and kidney; the defect can be demonstrated in cultured sk in fibroblasts (Treem et al 1988; Erikson et al 1989). Patients affect ed with the disease may present with progressive cardiomyopathy, muscl e weakness and/or fasting hypoglycaemia. Clinical findings may also in clude failure to thrice and anaemia. Response to carnitine therapy is usually dramatic (Tein et al 1990; Stanley et al 1991; Garavaglia et a l 1991). We present the clinical and biochemical findings in a Spanish boy affected with the disease, and remark the difficulties encountere d for the diagnosis when carnitine treatment has already started.