Details of Disease | DrugMAP

General Information of Disease (ID: DIS8EP8S)

Disease Name	Glycine N-methyltransferase deficiency
Synonyms	glycine N-methyltransferase deficiency; hypermethioninemia due to GNMT deficiency; GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; Glycine N-methyltransferase deficiency
Definition	Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800mol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.
Disease Hierarchy	DISC7OZE: Disorder of methionine catabolism DIS8EP8S: Glycine N-methyltransferase deficiency
Disease Identifiers	MONDO ID MONDO_0011698 MESH ID C564683 UMLS CUI C1847720 OMIM ID 606664 MedGen ID 338300 Orphanet ID 289891 SNOMED CT ID 763720007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AHCY	TTE2KUJ	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNMT	OT0O2OQO	Strong	Autosomal recessive	[2]
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References

1	Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency. PLoS One. 2016 Mar 14;11(3):e0151261. doi: 10.1371/journal.pone.0151261. eCollection 2016.
2	NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.