Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.
Publication/Presentation Date
7-1-1980
Abstract
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.
Volume
30
Issue
7 Pt 1
First Page
714
Last Page
718
ISSN
0028-3878
Published In/Presented At
Robinson, B. H., Oei, J., Sherwood, W. G., Slyper, A. H., Heininger, J., & Mamer, O. A. (1980). Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome. Neurology, 30(7 Pt 1), 714–718. https://doi.org/10.1212/wnl.30.7.714
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
6156427
Department(s)
Department of Pediatrics
Document Type
Article