Glycine N-methyltransferase deficiency

How might glycine N-methyltransferase deficiency be treated?

Because there are usually no symptoms, treatment may not be needed. It is important, however, to have a careful follow-up. A low methionine diet (300 mg/day) can correct the biochemical abnormalities. In general, methionine restriction should be done when levels are greater than 800 μmol/L. The aim of the diet should be to maintain methionine levels around 500–600 μmol/L.

Physicians following patients should be aware that besides the liver, GNMT protein is expressed in a number of tissues (prostate, pancreas, kidney, submaxillary glands, intestinal mucosa, and brain). Regular measurements of aminotransferases, liver function (albumin, prothrombin time) and methionine levels may be useful. Yearly assessments of plasma alpha-fetoprotein levels as well as liver ultrasound and neurological examination may also be recommended.

Last updated on 05-01-20


Connect with other users with Glycine N-methyltransferase deficiency on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App