[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl].
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 as Reye's syndrome. Urinary organic profile suggested this inherited metabolic 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 HMG Co A lyase deficiency are developed. The pattern of organic aciduria must be studied in all patients presenting with Reye's syndrome.
Karcher
C
C
Unité de reánimation médicale infantile et laboratoire de recherche en pédiatrie, hôpital d'Enfants, Vandoeuvre-lès-Nancy, France.
Rousselot
J M
JM
Lefebvre
E
E
Vidailhet
M
M
D002675:Child, Preschool; D005260:Female; D006801:Humans; D007652:Oxo-Acid-Lyases / Q000172:deficiency*; D012202:Reye Syndrome / Q000209:etiology*
D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase
Déficit en hydroxy-méthylglutaryl-coenzyme A lyase révélé par un syndrome de Reye chez une fille de 3 ans.