3-HYDROXY-3-METHYLGLUTARYL-COENZYME-A LYASE DEFICIENCY PRESENTING AS REYES-SYNDROME IN A 3-YEAR-OLD GIRL

Authors
KARCHER C ROUSSELOT JM LEFEBVRE E VIDAILHET M
Citation
C. Karcher et al., 3-HYDROXY-3-METHYLGLUTARYL-COENZYME-A LYASE DEFICIENCY PRESENTING AS REYES-SYNDROME IN A 3-YEAR-OLD GIRL, Pediatrie, 48(5), 1993, pp. 385-387
Citations number
NO
Categorie Soggetti
Pediatrics
Journal title
Pediatrie → ACNP
ISSN journal
00314021
Volume
48
Issue
5
Year of publication
1993
Pages
385 - 387
Database
ISI
SICI code
0031-4021(1993)48:5<385:3LDPAR>2.0.ZU;2-P
Abstract
The authors report on one case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HMG-Co A lyase) deficiency in a 3 year-old girl, presenting a s Reye's syndrome. Urinary organic profile suggested this inherited me tabolic disease; decreased activity of HMG-Co A lyase was demonstrated in cultured fibroblasts. The metabolic etiologies of Reye's syndrome are summarized; clinical, biological, and therapeutic assessment of HM G Co A lyase deficiency are developed. The pattern of organic aciduria must be studied in all patients presenting with Reye's syndrome.