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)

We discuss an infant with hepatitis and hypermethioninemia. An inborn error of metabolism, such as methionine adenosyltransferase deficiency or hereditary tyrosinemia, was originally thought to be the basis for these abnormalities. The infant's subsequent clinical course, however, was incompatible with such a diagnosis; the hypermethioninemia was instead due to the trilogy of prematurity, hepatitis, and a high-protein, high-methionine diet.
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PMID:Hypermethioninemia in an infant. 56 5

The metabolism of sulphur-containing amino acids is impaired in patients with advanced liver disease, but very few data are available in less severe chronic liver disease. We measured fasting plasma levels of methionine, cystine and taurine in 10 healthy subjects and 50 patients with biopsy proven liver disease: chronic persistent/active hepatitis (30 cases), compensated cirrhosis (10 cases) and decompensated cirrhosis (10 cases). Hypermethioninemia (up to 10 times control values) was present only in decompensated cirrhosis. Cystine was markedly reduced in patients with compensated chronic liver disease, while in advanced cirrhosis its concentration was within the normal range. No differences in taurine plasma levels were observed between the various groups. This study suggests that a derangement in sulphur amino acid metabolism, possibly located at various steps along the trans-sulphuration pathway, is also present in mild forms of chronic liver disease.
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PMID:Sulphur amino acid pattern in chronic liver disease. 802 2

We report studies of a Croatian boy, a proven case of human S-adenosylhomocysteine (AdoHcy) hydrolase deficiency. Psychomotor development was slow until his fifth month; thereafter, virtually absent until treatment was started. He had marked hypotonia with elevated serum creatine kinase and transaminases, prolonged prothrombin time and low albumin. Electron microscopy of muscle showed numerous abnormal myelin figures; liver biopsy showed mild hepatitis with sparse rough endoplasmic reticulum. Brain MRI at 12.7 months revealed white matter atrophy and abnormally slow myelination. Hypermethioninemia was present in the initial metabolic study at age 8 months, and persisted (up to 784 microM) without tyrosine elevation. Plasma total homocysteine was very slightly elevated for an infant to 14.5-15.9 microM. In plasma, S-adenosylmethionine was 30-fold and AdoHcy 150-fold elevated. Activity of AdoHcy hydrolase was approximately equal to 3% of control in liver and was 5-10% of the control values in red blood cells and cultured fibroblasts. We found no evidence of a soluble inhibitor of the enzyme in extracts of the patient's cultured fibroblasts. Additional pretreatment abnormalities in plasma included low concentrations of phosphatidylcholine and choline, with elevations of guanidinoacetate, betaine, dimethylglycine, and cystathionine. Leukocyte DNA was hypermethylated. Gene analysis revealed two mutations in exon 4: a maternally derived stop codon, and a paternally derived missense mutation. We discuss reasons for biochemical abnormalities and pathophysiological aspects of AdoHcy hydrolase deficiency.
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PMID:S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. 1502 24