Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.

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.

• Authors: B H Robinson, J Oei, W G Sherwood, A H Slyper, J Heininger, O A Mamer
• Journal: Neurology (Neurology) Vol. 30 Issue 7 Pt 1 Pg. 714-8 (Jul 1980) ISSN: 0028-3878 [Print] United States
• PMID: 6156427 (Publication Type: Case Reports, Journal Article)

Chemical References

• Amino Acids
• Blood Glucose
• Hydroxybutyrates
• Lactates
• Meglutol
• Hydroxymethylglutaryl-CoA Synthase
• Oxo-Acid-Lyases

Topics

• Amino Acids (blood)
• Blood Glucose
• Child, Preschool
• Chromatography, Ion Exchange
• Humans
• Hydroxybutyrates (blood)
• Hydroxymethylglutaryl-CoA Synthase (deficiency)
• Lactates (blood)
• Liver (pathology)
• Male
• Meglutol (urine)
• Oxo-Acid-Lyases (deficiency)
• Reye Syndrome (diagnosis, enzymology)