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Gene

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GENATLAS PHENOTYPE

last update : 3/07/2006

Symbol	GNMT
Location	6p21.1
Name	persistent isolated hypermethioninaemia
Corresponding gene	GNMT
Main clinical features	elevated levels of plasma S-adenosyl-methionine (AdoMet) without elevation of sarcosinemia mild hepatomegaly and chronic elevation of serum transaminases not attributable to conventional causes of liver disease.
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Gene product

Name	glycine N-methyltransferase

Remark(s)