Methionine adenosyltransferase deficiency

How might methionine adenosyltransferase deficiency be treated?

All patients, even when they do not have any symptoms, should have regular neurological and cognitive testing due to the possibility of neurological symptoms. If indicated, a brain MRI could also be done. Symptomatic patients should be treated with a methionine restricted diet if the methionine level is above 600 μmol/L. Treatment aims to get the methionine levels around 500 to 600 μmol/L. Neurological symptoms are more likely to develop when methionine levels in the blood are around 800 μmol/L.

S-adenosylmethionine (SAMe) supplementation (AdoMet supplementation) may be indicated if clinical signs and symptoms develop while on methionine restriction. The most effective oral dose of AdoMet is unknown. Doses between 400 to 1600 mg/day have been used in various conditions and seem to be well tolerated. Some evidence suggests that AdoMet supplementation may lead to normalization of brain changes seen on imaging.

Last updated on 05-01-20

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