Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.
A 2-year-old boy had acute fever, malaise, and somnolence with hepatomegaly, increased blood ammonia content (338 microM), 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 beta-hydroxy-beta-methyl glutarate (HMG), beta-methylglutaconate, beta-hydroxyisovalerate, and beta-methylglutaric and glutaric acids. In cultured skin fibroblasts and liver, beta-hydroxy-beta-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.
D000596:Amino Acids / Q000097:blood; D001786:Blood Glucose; D002675:Child, Preschool; D002852:Chromatography, Ion Exchange; D006801:Humans; D006885:Hydroxybutyrates / Q000097:blood; D006904:Hydroxymethylglutaryl-CoA Synthase / Q000172:deficiency*; D007773:Lactates / Q000097:blood; D008099:Liver / Q000473:pathology; D008297:Male; D015093:Meglutol / Q000652:urine; D007652:Oxo-Acid-Lyases / Q000172:deficiency*; D012202:Reye Syndrome / Q000175:diagnosis / Q000201:enzymology*
D000596:Amino Acids; D001786:Blood Glucose; D006885:Hydroxybutyrates; D007773:Lactates; D015093:Meglutol; D006904:Hydroxymethylglutaryl-CoA Synthase; D007652:Oxo-Acid-Lyases