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Summary
GLYCINE N-METHYLTRANSFERASE DEFICIENCY
GNMT DEFICIENCY
606664
OMIM = Online Medalian Inheritance of Men
289891
6p21.1
rare
autosomal recessive
symptoms
failure to thrive
hepatomegaly (large liver)
laboratory finding
Transaminases0.000.00 increasedurine
L-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