{"Name":"Hepatic methionine adenosyltransferase deficiency","DiseaseID__c":"GARD:0008397","id":8397,"encodedName":"hepatic-methionine-adenosyltransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hepatic methionine adenosyltransferase deficiency","Xref_IDs__c":"57835009; C0268621; C123435; MEDGEN:75700; MONDO:0009607; OMIM:250850; ORPHA:168598","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009607","Disease_Description__c":"A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients.","GARD_Name__c":"Hepatic methionine adenosyltransferase deficiency","GARD_Synonym__c":"brain demyelination due to methionine adenosyltransferase deficiency; deficiency of methionine adenosyltransferase; hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency; isolated persistent hypermethioninemia; mat deficiency; mat i/iii deficiency; methionine adenosyltransferase deficiency; methionine adenosyltransferase deficiency, autosomal recessive","Curated_Disease_Description_Source__c":"GARD:0008397","Curated_Disease_Description__c":"Brain demyelination due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in an isolated increase of the amino acid methionine in the blood (hypermethioninemia). In most cases there are no symptoms and it is usually a benign condition, but some patients may present with neurologic or developmental problems and/or bad breath. It is caused by genetic changes in the MAT1A gene. Inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:168598","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009607","ORPHANET_ID__c":"ORPHA:168598","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de metionina adenosiltransferasa i/iiii","Spanish_Description_Source__c":"ORPHA:168598","Spanish_Description__c":"Es un error congénito del metabolismo poco frecuente caracterizado por niveles de metionina sérica persistentemente elevados. La mitad de los pacientes con deficiencia de MAT I/III descritos, en particular aquellos con hipermetioninemia por debajo de 800 µM, no presentan alteraciones del SNC y son clínicamente asintomáticos. Sin embargo, los pacientes con niveles más elevados pueden mostrar evidencia de anomalías del sistema nervioso central, en particular hipo- o desmielinización en la resonancia magnética cerebral, así como retraso del desarrollo y discapacidad intelectual. En algunos pacientes se ha descrito halitosis o un fuerte olor a orina y sudor.","Spanish_Disease_Name__c":"deficiencia de metionina adenosiltransferasa i/iiii","Spanish_GARD_Synonym__c":"deficiencia de mat i/iii; enfermedad de mudd","Category_Linearization__c":"ORPHA:98006","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":"Brain demyelination due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in an isolated increase of the amino acid methionine in the blood (hypermethioninemia). In most cases there are no symptoms and it is usually a benign condition, but some patients may present with neurologic or developmental problems and/or bad breath. It is caused by genetic changes in the MAT1A gene. Inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"GARD:0008397","GARD_Synonym__c":"brain demyelination due to methionine adenosyltransferase deficiency; deficiency of methionine adenosyltransferase; hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency; isolated persistent hypermethioninemia; mat deficiency; mat i/iii deficiency; methionine adenosyltransferase deficiency; methionine adenosyltransferase deficiency, autosomal recessive","Name":"Hepatic methionine adenosyltransferase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168598"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/MET"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008397","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123435","Source__c":"C0268621; MONDO:0009607","Xref__c":"C123435"},{"URL__c":"https://www.omim.org/entry/250850","Source__c":"C0268621; MONDO:0009607; ORPHA:168598","Xref__c":"OMIM:250850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75700","Source__c":"C0268621","Xref__c":"MEDGEN:75700"},{"URL__c":"https://www.orpha.net/en/disease/detail/168598","Source__c":"C0268621; MONDO:0009607; ORPHA:168598","Xref__c":"ORPHA:168598"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268621","Source__c":"C0268621","Xref__c":"C0268621"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009607","Source__c":"GARD:0008397","Xref__c":"MONDO:0009607"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=57835009","Source__c":"C0268621","Xref__c":"57835009"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124283007","Source__c":"C0268621","Xref__c":"124283007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MAT1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mat1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:250850","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250850","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:250850","Feature__r":{"HPO_Description__c":"A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011096","HPO_Synonym__c":"Demyelination","HPO_Name__c":"Peripheral demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250850","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250850","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250850","Feature__r":{"HPO_Description__c":"A loss of myelin from nerve fibers in the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007305","HPO_Synonym__c":"Demyelination in central white matter","HPO_Name__c":"CNS demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:250850","Feature__r":{"HPO_Description__c":"Noticeably unpleasant odors exhaled in breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100812","HPO_Synonym__c":"Bad breath; Foetor ex ore","HPO_Name__c":"Halitosis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["brain demyelination due to methionine adenosyltransferase deficiency"," deficiency of methionine adenosyltransferase"," hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency"," isolated persistent hypermethioninemia"," mat deficiency"," mat i/iii deficiency"," methionine adenosyltransferase deficiency"," methionine adenosyltransferase deficiency, autosomal recessive"]}