Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2000-8-17
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1608-8115
pubmed:author
pubmed:issnType
Print
pubmed:volume
40
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
445-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.
pubmed:affiliation
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan. fuujen@tcts.seed.net.tw
pubmed:publicationType
Journal Article, Case Reports