Intermittent hypermethioninaemia associated with normal hepatic methionine adenosyltransferase activity: report of a case.
A 5-month-old infant was found to have hypermethioninaemia (0.8 mumol/ml) that has persisted intermittently (0.02-1.3 mumol/ml) over a period of 3 years. She presented with developmental delay and failure to thrive associated with gross abuse and neglect. Histological examination of the liver revealed inflammation of the portal triads. The activity of hepatic L-methionine-S-adenosyltransferase (EC 2.5.1.6) was normal. Whether the biochemical findings were the cause or the result of the hepatic damage is uncertain, but the minimal histological findings in the liver suggest a primary biochemical defect.
D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology*; D008715:Methionine / Q000097:blood*; D008716:Methionine Adenosyltransferase / Q000097:blood / Q000378:metabolism*; D012436:S-Adenosylmethionine / Q000097:blood / Q000378:metabolism; D014166:Transferases / Q000378:metabolism*
D012436:S-Adenosylmethionine; D008715:Methionine; D014166:Transferases; D008716:Methionine Adenosyltransferase