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

Carnitine transport defect (CTD) is a recessively inherited disorder in the intracellular uptake of carnitine that impairs carnitine transport in muscle and kidney; the defect can be demonstrated in cultured skin fibroblasts (Treem et al 1988; Erikson et al 1989). Patients affected with the disease may present with progressive cardiomyopathy, muscle weakness and/or fasting hypoglycaemia. Clinical findings may also include failure to thrice and anaemia. Response to carnitine therapy is usually dramatic (Tein et al 1990; Stanley et al 1991; Garavaglia et al 1991). We present the clinical and biochemical findings in a Spanish boy affected with the disease, and remark the difficulties encountered for the diagnosis when carnitine treatment has already started.