Familial Systemic Carnitine Deficiency

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Abstract
To the Editor —In 1984, Cruse et al1 described two siblings with systemic carnitine deficiency. One of these children had a recurrent metabolic encephalopathy that was diagnosed as Reye syndrome. The first episode of this toxic syndrome occurred at 11 months of age and was preceded by a four-day history of low-grade fever, decreased appetite, and diarrhea. Her initial blood glucose concentration was 2 mg/dL. She had a hepatomegaly of 3 cm, and her liver enzyme levels were moderately elevated. Intravenous glucose was begun and the child was alert by 24 hours. At age 36 months the child again became obtunded during the course of an intercurrent upper respiratory tract infection. Again the child was found to have hypoglycemia, mild hyperammonemia, and hepatomegaly. Subsequent evaluation showed that she also had decreased serum and tissue levels of carnitine. Her older sibling, who was asymptomatic, was also found to be carnitine