Intermittent hypermethioninaemia associated with normal hepatic methionine adenosyltransferase activity: Report of a case

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Abstract
A 5-month-old infant was found to have hypermethioninaemia (0.8 µmol/ml) that has persisted intermittently (0.02–1.3 µmol/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 hepaticl-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.