[Alpers' infantile cerebral poliodystrophy. A case with abnormal hepatic pyruvate carboxylase].
The authors describe an anatomical familial case of progressive infantile cerebral poliodystrophy (Alpers disease), in which the study of enzyme kinetics of hepatic pyruvate carboxylase revealed an abnormal graph reflecting a loss of activity of the enzyme with low concentrations of substrate, This is a new feature in the literature on Alpers disease, and possibly indicates one of the pathogenic mechanisms responsible in this disorder which remains mysterious, although its pathology has been clearly described.
D001259:Ataxia / Q000201:enzymology; D001921:Brain / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology*; D008297:Male; D009207:Myoclonus / Q000201:enzymology; D011766:Pyruvate Carboxylase / Q000032:analysis*; D013577:Syndrome
D011766:Pyruvate Carboxylase
Poliodystrophie cérébrale infantile d'Alpers. Un cas avec anomalie de la pyruvate-carboxylase hépatique.