{"Name":"Glycine N-methyltransferase deficiency","DiseaseID__c":"GARD:0010764","id":10764,"encodedName":"glycine-n-methyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Glycine N-methyltransferase deficiency","Xref_IDs__c":"763720007; C1847720; DOID:0111037; MEDGEN:338300; MONDO:0011698; OMIM:606664; ORPHA:289891","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011698","Disease_Description__c":"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 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.","GARD_Name__c":"Glycine N-methyltransferase deficiency","GARD_Synonym__c":"gnmt deficiency; hypermethioninemia due to deficiency of glycine n-methyltransferase; hypermethioninemia due to glycine n-methyltransferase deficiency; hypermethioninemia due to gnmt (glycine n-methyltransferase) deficiency; hypermethioninemia due to gnmt deficiency","Curated_Disease_Description_Source__c":"GARD:0010764","Curated_Disease_Description__c":"Hypermethioninemia due to 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 hypermethioninemia due to glycine N-methyltransferase deficiency can have neurological problems when methionine levels are greater than 800 μmol/L. GNMT deficiency is caused by genetic changes in the GNMT gene. Inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:289891","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011698","ORPHANET_ID__c":"ORPHA:289891","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipermetioninemia por deficiencia de glicina n-metiltransferasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipermetioninemia por deficiencia de glicina n-metiltransferasa","Spanish_GARD_Synonym__c":"deficiencia de glicina n-metiltransferasa; hipermetioninemia por deficiencia de gnmt","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hypermethioninemia due to 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 hypermethioninemia due to glycine N-methyltransferase deficiency can have neurological problems when methionine levels are greater than 800 μmol/L. GNMT deficiency is caused by genetic changes in the GNMT gene. Inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0010764","GARD_Synonym__c":"gnmt deficiency; hypermethioninemia due to deficiency of glycine n-methyltransferase; hypermethioninemia due to glycine n-methyltransferase deficiency; hypermethioninemia due to gnmt (glycine n-methyltransferase) deficiency; hypermethioninemia due to gnmt deficiency","Name":"Glycine N-methyltransferase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847720"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010764","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111037","Source__c":"MONDO:0011698","Xref__c":"DOID:0111037"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847720","Source__c":"C1847720","Xref__c":"C1847720"},{"URL__c":"https://www.orpha.net/en/disease/detail/289891","Source__c":"C1847720; MONDO:0011698; ORPHA:289891","Xref__c":"ORPHA:289891"},{"URL__c":"https://www.omim.org/entry/606664","Source__c":"C1847720; MONDO:0011698; ORPHA:289891","Xref__c":"OMIM:606664"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763720007","Source__c":"C1847720; MONDO:0011698","Xref__c":"763720007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338300","Source__c":"C1847720","Xref__c":"MEDGEN:338300"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011698","Source__c":"GARD:0010764","Xref__c":"MONDO:0011698"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNMT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnmt","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:606664","Feature__r":{"HPO_Description__c":"An increased concentration of methionine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003235","HPO_Synonym__c":"Increased methionine in blood; Methioninemia","HPO_Name__c":"Hypermethioninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606664","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:606664","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics"]},"synonyms":["gnmt deficiency"," hypermethioninemia due to deficiency of glycine n-methyltransferase"," hypermethioninemia due to glycine n-methyltransferase deficiency"," hypermethioninemia due to gnmt (glycine n-methyltransferase) deficiency"," hypermethioninemia due to gnmt deficiency"]}