Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this study we present a patient with Canavan disease or Van Bogaert and Bertrand type of spongiform leukodystrophy, proven by brain biopsy. We performed morphological studies and biochemical assays on fresh homogenates of the grey and white matter. Quantitative neuromorphological analysis of the cortex showed normal values except for poor dendritic arborization of the inner layers. No signs of neuronal damage were observed. The Na-K-ATPase activity was increased. Pyruvate and ketone bodies oxidation rates and the activity of cytochrome-c oxidase were normal. We conclude that there is neither a primary neuronal damage nor a primary mitochondrial dysfunction in the oxidative processes despite the abnormal morphology of mitochondria in this disease.
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PMID:Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen. 205 80