A fatal case of reye-like syndrome with severe elevation of serum phenylalanine.

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The patient was born prematurely at 29 weeks of gestation and weighed 1, 450g. Guthrie test and serum amino acid analysis in the newborn period were normal. At 6 months of age he was diagnosed as having cerebral palsy and since then had undergone physical therapy. When he was 7 months of age he started to have watery diarrhea, fever and vomiting and he gradually became drowsy in the evening of the day when he was referred to us for further evaluation. In spite of an extensive supportive care he died about 24 hours after admission. The diagnosis was clinical Reye syndrome. However, pathological findings in liver showed the localized microvesicular steatosis and infiltlation of mononuclear cells. On analysis of serum amino acids phenylalanine was markedly increased, Enzymological investigations of the liver failed to show any deficiency of enzymes which are known to be involved in the phenylalanine metabolism pathway. Encephalopathy associated with elevated phenylalanine has not yet been reported. To clarify the etiology of such disorder, analysis of serum amino acids and enzymological examination of the liver should be done for the case of acute encephalopathy with elevation of phenylalanine.
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