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Hydroqnnethylglutaryl CoA lyase deficiency

Features resembling Reye syndrome

Departments of Paediatrics and Biochemistry, University of Toronto, and the Research Institute, The Hospital for Sick Children (Drs. Robinson, Oei, Sherwood, Slyper, and Heminger), Toronto, and the Biomedical Mass Spectrometry Unit, McGill University (Dr. Mamer), Montreal, Quebec, Canada.

A 2-year-old boy had acute fever, malaise, and somnolence with hepatomegaly, increased blood ammonia content (388 µM), high SGOT, low blood glucose content, and mild acidosis. A liver biopsy showed diffuse accumulation of lipid droplets in swollen hepatocytes, and abnormal urinary metabolites included ß-hydroxy-ß-methyl glutarate (HMG), ß-methylglutaconate, ß-hydroxyisovalerate, and ß-methylglutaric and glutaric acids. In cultured skin fibroblasts and liver, ß-hydroxy-ß-methyl glutaryl CoA lyase activity was about 10% of normal. Therefore, a genetic deficiency of HMGCoA lyase activity can cause a clinical syndrome similar to that of Reye syndrome when the patient is stressed by an acute viral infection.

Address correspondence and reprint requests to Dr. Shenvocd, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.

Accepted for publications October 11, 1979

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