glycine N-methyltransferase deficiency (GNMT deficiency)

Genetics

• associated with defects in GNMT are the cause of glycine N-methyltransferase deficiency

Clinical manifestations

• mild hepatomegaly

Laboratory

• chronic elevation of serum transaminases

More general terms

• hypermethioninemia

Database

• OMIM: https://mirror.omim.org/entry/606664