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.
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Authors | M Tommasi, A Jouvet-Telinge, N Kopp, J Pialat, J Gilly |
Journal | Annales d'anatomie pathologique
(Ann Anat Pathol (Paris))
Vol. 22
Issue 4
Pg. 337-42
( 1977)
ISSN: 0003-3871 [Print] France |
Vernacular Title | Poliodystrophie cérébrale infantile d'Alpers. Un cas avec anomalie de la pyruvate-carboxylase hépatique. |
PMID | 615502
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Ataxia
(enzymology)
- Brain
(pathology)
- Diffuse Cerebral Sclerosis of Schilder
(enzymology, genetics, pathology)
- Humans
- Infant
- Liver
(enzymology)
- Male
- Myoclonus
(enzymology)
- Pyruvate Carboxylase
(analysis)
- Syndrome
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