GLYCINE N-METHYLTRANSFERASE DEFICIENCY (GNMT)

Question 1

What is  GLYCINE N-METHYLTRANSFERASE DEFICIENCY (GNMT)?

Accepted Answer

very rare (3 cases)
autosomal recessive
mutation in the GNMT gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypermethioninämie durch Glycin N-Methyltransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606664

Question 4

Which enzymes are involved?

Accepted Answer

Glycine N-methyltransferase

Disease	GLYCINE N-METHYLTRANSFERASE DEFICIENCY (GNMT)
Synonym	GNMT DEFICIENCY
OMIM	606664 OMIM = Online Mendelian Inheritance of Men
Orphanet	289891
Protein (UniProt)	Glycine N-methyltransferase
ExPASy	2.1.1.20
Gene locus	6p21.1
ICD	E72.1
Summary	very rare (3 cases) autosomal recessive mutation in the GNMT gene
Laboratory findings	Methionine inc (plasma) S-Adenosylmethionine inc (plasma) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	failure to thrive hepatomegaly (large liver) onset, childhood onset, infancy