Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transport

Lewis J. Waber, David Valle, Catherine Neill, Salvatore DiMauro, Austin Shug

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183 Scopus citations


We studied a boy who presented at age 3 1/2 years with cardiomegaly, a distinctive electrocardiogram, and a history of a brother dying with cardiomyopathy. From age 3 1/2 to 5 years, cardiac disease progressed, resulting in intractable congestive heart failure. Skeletal muscle weakness developed and a muscle biopsy showed lipid myopathy. Muscle and plasma carnitine were reduced to 2 and 10% of the normal mean values, respectively. Therapy with l-carnitine (174 mg/kg/day) was begun at age 5 1/2 years and continued to the present (age 6 1/2 years). The cardiac disease has resolved and the muscle strength has returned to normal. Plasma carnitine concentrations have risen to the low-normal range, while urinary carnitine excretion has increased to values which are 30 times normal. The renal clearance of carnitine exceeds normal at all plasma concentrations and plasma carnitine values do not change acutely after an oral carnitine load. These results suggest that there is a distinct form of carnitine deficiency which presents as cardiomyopathy and may be successfully treated with l-carnitine. A defect in renal and possibly gastrointestinal transport of carnitine is a likely cause of this patient's disorder.

Original languageEnglish (US)
Pages (from-to)700-705
Number of pages6
JournalThe Journal of pediatrics
Issue number5
StatePublished - Nov 1982

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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