Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phenylalanine-4-hydroxylase activity was studied in liver tissue, obtained by biopsy from 5 patients with viral hepatitis and from 8 persons without parthological alterations of liver. The enzymatic activity was estimated by formation of 14C-tyrosine in presence and in absence of added cofactor 2-amine-4-hydroxy-6,7-dimethyltetrahydropteridine. Without addition of the cofactor the phenylalanine hydroxylase activity was of the same order of magnitude in liver tissue of the patients and of healthy persons. In presence of the cofactor the enzyme activity in liver of the patients with the hepatitis of moderate severity constituted 44% of the activity found in the control group. The rate of phenylalanine hydroxylation was 0.19 with 10-2 min-1 in patients with hepatitis and 0.5 with 10-2 min-1--in the control group. In severe and moderate forms of viral hepatitis the impairment of phenylalanine metabolism was due to decrease in the activity of phenylalanine-4-hydroxylase in liver tissue.
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PMID:[Phenylalanine-4-hydroxylase activity in the liver in viral hepatitis]. 59 92

Phenylketonuria (PKU) is a common genetic disorder in humans that arises from deficient activity of phenylalanine hydroxylase (PAH), which catalyzes the conversion of phenylalanine to tyrosine. There is a resultant hyperphenylalanemia with subsequent impairment in cognitive abilities, executive functions and motor coordination. The neuropathogenesis of the disease has not been completely elucidated, however, oxidative stress is considered to be a key feature of the disease process. Hyperphenylalanemia also adversely affects monoaminergic metabolism in the brain. For this reason we chose to evaluate the nigrostriatum of Pah(enu2) mice, to determine if alterations of monoamine metabolism resulted in morphologic nigrostriatal pathology. Furthermore, we believe that recent developments in adeno-associated virus (AAV)-based vectors have greatly increased the potential for long-term gene therapy and may be a viable alternative to dietary treatment for this metabolic disorder. In this study we identified neurodegenerative changes with regenerative responses in the nigrostriatum of Pah(enu2) mice that are consistent with oxidative injury and occurred as early as 4 weeks of age. These neuropathologic changes were reversed following portal vein delivery of a recombinant adeno-associated virus-mouse phenylalanine hydroxylase-woodchuck hepatitis virus post-transcriptional response element (rAAV-mPAH-WPRE) vector to Pah(enu2) mice and corresponded to rapid reduction of serum Phe levels.
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PMID:PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pah(enu2) mice. 1711 85