1129 SYSTEMIC CARNITINE DEFICIENCY: A CAUSE OF RECURRENT “REYE'S SYNDROME.”

Abstract

A white female had two episodes of protracted vomiting followed by an acute encephalopathy after a “viral” illness at 11 months and 4 9/12 years of age diagnosed as Reye's syndrome on the basis of laboratory data (most abnormal value given; value at 11 months given first) serum glucose-15,12 mg/dl; serum ammonia-97,144 ug/dl (nl<48); SGOT-105,103; prothrombin time-47%, 49%; CSF-normal and at 4 9/12 years a liver biospy showing extensive small vacuole fatty degeneration. A third mild episode occurred at age 5 years. Evaluation following recovery revealed minimal proximal muscle weakness, a non-specific EMG abnormality and no evidence of a urea cycle disorder. A fast had to be terminated after 18 hours when she vomited several times and became very lethargic. A muscle biopsy, obtained at 5½ years at a time of clinical remission, contained excess lipid; a liver biopsy was histologically normal. Free carnitine levels were: serum 8.66 nm/ml (nl range 27.9-67.2) muscle 4.22 nm/mg non-collagen protein (NCP) (nl 7.96-22.86) and liver 0.4 nm/mg NCP (nl 3.3-10.4). In 7 children with single episodes of Reye's syndrome serum (n=4), muscle (n=3) and liver (n=1) free carnitine levels were normal except for one slightly low serem level. Systemic carnitine deficiency may mimic “Reye's syndrome”; the episodes, some initiated by fasting, may be preventale by carnitine therapy.

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