Systemic carnitine deficiency. Report of a fatal case with multisystemic manifestations

Abstract

A 14-year-old boy presented with recurrent and intractable hypoglycemia. He developed marked hepatic dysfunction and a severe myopathy. The diagnosis of systemic carnitine deficiency was not made until after his death from acute cardiac arrest. The recognition that systemic carnitine deficiency may present with multisystemic manifestations may allow earlier diagnosis and potentially effective replacement therapy in other patients so afflicted.