{"orpha":289891,"name":"Hypermethioninemia due to glycine N-methyltransferase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Glycine N-methyltransferase deficiency","Hypermethioninemia due to GNMT deficiency"],"definition":"Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289891/","orphanet_url":"https://www.orpha.net/en/disease/detail/289891","names":{"fr":{"name":"Hyperméthioninémie par déficit en glycine N-méthyltransférase","synonyms":["Hyperméthioninémie par déficit en GNMT"],"definition":"L'hyperméthioninémie par déficit en glycine N-méthyltransférase est une erreur génétique innée et rare du métabolisme. Son phénotype clinique est relativement bénin, et se manifeste seulement par une hépatomégalie légère à modérée. Les analyses biologiques révèlent une hyperméthioninémie très prononcée et permanente, une augmentation légère à modérée du taux d'aminotransférases, et un taux très élevé de la S-adénosylméthionine plasmatique, avec des taux normaux de S-adénosylhomocystéine et d'homocystéine totale."},"de":{"name":"Hypermethioninämie durch Glycin N-Methyltransferase-Mangel","synonyms":["Glycin N-Methyltransferase-Mangel","Hypermethioninämie durch GNMT-Mangel"],"definition":"Hypermethioninämie aufgrund eines Glycin-N-Methyltransferase-Mangels ist eine seltene, genetisch bedingte Stoffwechselstörung, die durch einen relativ gutartigen klinischen Phänotyp gekennzeichnet ist. Es wird nur über eine leichte bis mäßige Hepatomegalie berichtet, zusätzlich zu Laboruntersuchungen, die eine permanente, stark erhöhte Hypermethioninämie, eine leichte bis mäßige Erhöhung der Aminotransferasen und stark erhöhtes S-Adenosyl-Methionin im Plasma bei normalem S-Adenosylhomocystein und Gesamthomocystein zeigen."},"es":{"name":"Hipermetioninemia por deficiencia de glicina N-metiltransferasa","synonyms":["Deficiencia de glicina N-metiltransferasa","Hipermetioninemia por deficiencia de GNMT"],"definition":"La hipermetioninemia por deficiencia de glicina N-metiltransferasa es un error congénito del metabolismo, hereditario y poco frecuente, caracterizado por un fenotipo clínico relativamente benigno, con hepatomegalia de leve a moderada acompañada de resultados de pruebas de laboratorio que revelan hipermetioninemia permanente y muy elevada, un incremento de leve a moderado de aminotransferasas y niveles muy elevados de S-adenosil-metionina plasmática con valores normales de S-adenosilhomocisteína y homocisteína total."},"it":{"name":"Ipermetioninemia da deficit di glicina N-metiltransferasi","synonyms":["Deficit di glicina N-metiltransferasi","Ipermetioninemia da deficit di GNMT"],"definition":"L'ipermetioninemia da deficit di glicina N-metiltransferasi è un difetto genetico raro congenito del metabolismo con un quadro clinico relativamente benigno, caratterizzato da epatomegalia lieve o moderata. Gli esami di laboratorio evidenziano ipermetioninemia particolarmente elevata, un aumento lieve o moderato delle aminotransferasi, livelli molto elevati di S-adenosil-metionina nel plasma e livelli normali di S-adenosilomocisteina e omocisteina totale."},"nl":{"name":"Hypermethioninemie door deficiëntie van glycine N-methyltransferase","synonyms":["Deficiëntie van glycine N-methyltransferase","Hypermethioninemie door GNMT-deficiëntie"],"definition":"Hypermethioninemie door glycine N-methyltransferasedeficiëntie is een zeldzame, genetische aangeboren afwijking van het metabolisme die gekarakteriseerd wordt door een relatief goedaardig klinisch fenotype, waarbij enkel milde tot matige hepatomegalie gerapporteerd wordt, bovenop laboratoriumtesten die permanente, sterk toegenomen hypermethioninemie, milde tot matige toename van aminotransferasen en sterk verhoogd S-adenosyl-methionine in het plasma met normale S-adenosylhomocysteïne en totale homocysteïne aantonen."},"pt":{"name":"Hipermetioninemia por deficiência de glicina N-metiltransferase","synonyms":["Deficiência de glicina N-metiltransferase","Hipermetioninemia por deficiência de GNMT"]},"pl":{"name":"Hipermetioninemia z powodu niedoboru N-metylotransferazy glicyny","synonyms":["Hipermetioninemia z powodu niedoboru GNMT","Niedobór N-metylotransferazy glicyny"]},"cs":{"name":"Hypermethioninemie způsobená deficitem glycin N-methyltransferázy","synonyms":["Deficit glycin N-methyltransferázy","Hypermethioninemie způsobená deficitem GNMT"]},"uk":{"name":"Гіперметіонінемія внаслідок дефіциту гліцин-N-метилтрансферази","synonyms":["Дефіцит гліцин-N-метилтрансферази","Гіперметіонінемія внаслідок дефіциту GNMT"],"definition":"Hypermethioninemia due to glycine N-methyltransferase deficiency is a rare, genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine."},"zh":{"name":"甘氨酸N-甲基转移酶缺陷所致高蛋氨酸血症","synonyms":["甘氨酸N-甲基转移酶缺乏症所致高蛋氨酸血症"],"definition":"甘氨酸N-甲基转移酶缺乏所致高甲硫胺酸血症是一种罕见的遗传性先天性代谢异常，临床表现相对良性，报告仅有轻至中度肝肿大，此外，实验室研究显示永久性高蛋氨酸血症明显升高，转氨酶轻至中度升高，血浆S-腺苷甲硫氨酸升高，S-腺苷同型半胱氨酸和总同型半胱氨酸升高。"},"tr":{"name":"Glisin N-metiltransferaz eksikliğine bağlı hipermetiyoninemi","synonyms":["Glisin N-metiltransferaz eksikliği","GNMT eksikliğine bağlı hipermetiyoninemi"]}},"xrefs":[{"source":"OMIM","code":"606664","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"16192453"},{"source":"MONDO","code":"0011698","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10764","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"GNMT","name":"glycine N-methyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19585268[PMID]","hgnc":"4415","ensembl":"ENSG00000124713","omim":"606628","loci":["6p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}