Related Experiment Videos
[Alpers' infantile cerebral poliodystrophy. A case with abnormal hepatic pyruvate carboxylase]
Insights
This study details a familial case of Alpers disease, revealing a novel enzyme kinetic abnormality in hepatic pyruvate carboxylase. This finding offers new insights into the mysterious pathogenic mechanisms of this progressive infantile cerebral poliodystrophy.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Alpers disease is a rare, progressive infantile cerebral poliodystrophy with a poorly understood etiology.
- Previous research has described the pathology but not the specific biochemical defects.
Abstract:
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.