[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl].

The authors report on one case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMG-Co A lyase) deficiency in a 3 year-old girl, presenting as Reye's syndrome. Urinary organic profile suggested this inherited metabolic disease; decreased activity of HMG-Co A lyase was demonstrated in cultured fibroblasts. The metabolic etiologies of Reye's syndrome are summarized; clinical, biological, and therapeutic assessment of HMG Co A lyase deficiency are developed. The pattern of organic aciduria must be studied in all patients presenting with Reye's syndrome.