3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.

Published

Journal Article

We report the case of a patient with 3-hydroxy-3-methylglutaric aciduria who presented with a repeat attack of Reye like syndrome clinically. Vomiting and somnolence, generalized tonic and clonic convulsions with hepatomegaly, hyperammonemia, liver function impairment, and mild metabolic acidosis were the presenting signs. 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids were detected in the urine by gas chromatography-mass spectrometry. 3-methylglutarylcarnitine was also identified in the urine by fast atom bombardment and tandem mass spectrometry. Therefore, the possibility of metabolic disease should be considered in neonates and infants with repeat attacks of Reye like syndrome and a history of similarly affected siblings.

Full Text

Duke Authors

Cited Authors

  • Lee, C; Tsai, FJ; Wu, JY; Peng, CT; Tsai, CH; Hwu, WL; Wang, TR; Millington, DS

Published Date

  • November 1999

Published In

Volume / Issue

  • 40 / 6

Start / End Page

  • 445 - 447

PubMed ID

  • 10927963

Pubmed Central ID

  • 10927963

International Standard Serial Number (ISSN)

  • 1608-8115

Language

  • eng

Conference Location

  • China (Republic : 1949- )