Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver disease, although usually asymptomatic, is a frequent accompaniment of AIDS. Hepatomegaly and macrosteatosis are prevalent but non-specific findings. Evidence of remote hepatitis B virus infection is extremely common; however, the HBsAg carrier state, chronic active hepatitis, or cirrhosis occur no more frequently in AIDS patients than in the general population. Opportunistic intrahepatic infections (such as MAI, fungi, and CMV) or neoplasms (such as lymphoma or KS) usually reflect a disseminated process; liver involvement generally does not directly cause morbidity or result in death. Although biochemical liver tests are commonly elevated in the AIDS population, alkaline phosphatase has proved to be the most specific enzyme for infiltrative processes. Percutaneous liver biopsy has a high diagnostic yield, although the treatment options are currently limited. Acalculous cholecystitis and biliary tract obstruction have been recently described and probably result from CMV and/or cryptosporidial infection. Radiologic features of papillary stenosis and/or sclerosing cholangitis have been demonstrated. In contrast to hepatic parenchymal disease, these entities may be amenable to surgical or endoscopic therapeutic maneuvers.
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PMID:Hepatobiliary abnormalities of AIDS. 304 66

Glutathione transferase zeta (GSTZ1-1) is the major enzyme that catalyzes the metabolism of alpha-halo acids such as dichloroacetic acid, a carcinogenic contaminant of chlorinated water. GSTZ1-1 is identical with maleylacetoacetate isomerase, which catalyzes the penultimate step in the catabolic pathways for phenylalanine and tyrosine. In this study we have deleted the Gstz1 gene in BALB/c mice and characterized their phenotype. Gstz1(-/-) mice do not have demonstrable activity with maleylacetone and alpha-halo acid substrates, and other GSTs do not compensate for the loss of this enzyme. When fed a standard diet, the GSTZ1-1-deficient mice showed enlarged liver and kidneys as well as splenic atrophy. Light and electron microscopic examination revealed multifocal hepatitis and ultrastructural changes in the kidney. The addition of 3% (w/v) phenylalanine to the drinking water was lethal for young mice (<28 days old) and caused liver necrosis, macrovesicular steatosis, splenic atrophy, and a significant loss of circulating leukocytes in older surviving mice. GSTZ1-1-deficient mice showed constitutive induction of alpha, mu, and pi class GSTs as well as NAD(P)H:quinone oxidoreductase 1. The overall response is consistent with the chronic accumulation of a toxic metabolite(s). We detected the accumulation of succinylacetone in the serum of deficient mice but cannot exclude the possibility that maleylacetoacetate and maleylacetone may also accumulate.
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PMID:Mice deficient in glutathione transferase zeta/maleylacetoacetate isomerase exhibit a range of pathological changes and elevated expression of alpha, mu, and pi class glutathione transferases. 1527 41