Visit Metagene.de!
Summary
GLYCINE N-METHYLTRANSFERASE DEFICIENCY
GNMT DEFICIENCY
606664
OMIM = Online Medalian Inheritance of Men
289891
6p21.1
very rare (3 cases)
autosomal recessive
mutation in the GNMT gene
symptoms
failure to thrive
hepatomegaly (large liver)
onset, childhood
onset, infancy
laboratory finding
Transaminases0.000.00 increasedserum
Methionine0.000.00 increasedplasma
S-Adenosylmethionine0.000.00 increasedplasma
Literature
Sabir N,Jones EA, Padmakumar BTrimethylaminuriaBMJ Case Rep002016
Schlapbach LJet al.Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexiaJ Inher Met Dis290238-2392006
Bakker MJet al.Startle syndromesLancet Neurol50513-5242006
Siren Aet al.Hyperekplexia in Kurdish families: a possible GLRA1 founder mutationNeurology6711137-1392006
Tetreault M,et al.Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndromeHum Genet1349981-9912015