{"Name":"Methylmalonic acidemia","DiseaseID__c":"GARD:0007033","id":7033,"encodedName":"methylmalonic-acidemia","IsDeleted":false,"Disease_Name_Full__c":"Methylmalonic acidemia","Xref_IDs__c":"42393006; C0268583; C537358; C98986; DOID:14749; E71.120; HP:0002912; MEDGEN:120654; MONDO:0002012; OMIMPS:251000","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0002012","Disease_Description__c":"A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.","GARD_Name__c":"Methylmalonic acidemia","GARD_Synonym__c":"elevated circulating methylmalonic acid concentration; isolated methylmalonic acidemia; methylmalonic aciduria; mma; mma - methylmalonic aciduria","Curated_Disease_Description_Source__c":"GARD:0007033","Curated_Disease_Description__c":"Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of the pancreas (pancreatitis). People with methylmalonic acidemia can have frequent episodes of excess acid in the blood (metabolic acidosis) that cause serious health complications.Without treatment, this disorder can lead to coma and death in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002012","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of the pancreas (pancreatitis). People with methylmalonic acidemia can have frequent episodes of excess acid in the blood (metabolic acidosis) that cause serious health complications.Without treatment, this disorder can lead to coma and death in some cases.","Curated_Disease_Description_Source__c":"GARD:0007033","GARD_Synonym__c":"elevated circulating methylmalonic acid concentration; isolated methylmalonic acidemia; methylmalonic aciduria; mma; mma - methylmalonic aciduria","Name":"Methylmalonic acidemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.org/"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-D"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-A"},{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-C"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-B"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/MUT"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268583"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98986","Source__c":"C0268583; MONDO:0002012","Xref__c":"C98986"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=42393006","Source__c":"C0268583; MONDO:0002012","Xref__c":"42393006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268583","Source__c":"C0268583","Xref__c":"C0268583"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E71.120","Source__c":"MONDO:0002012","Xref__c":"E71.120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537358","Source__c":"MONDO:0002012","Xref__c":"C537358"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120654","Source__c":"C0268583","Xref__c":"MEDGEN:120654"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14749","Source__c":"MONDO:0002012","Xref__c":"DOID:14749"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002012","Source__c":"GARD:0007033","Xref__c":"MONDO:0002012"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002912","Source__c":"C0268583","Xref__c":"HP:0002912"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS251000","Source__c":"MONDO:0002012","Xref__c":"OMIMPS:251000"},{"URL__c":"https://medlineplus.gov/genetics/condition/methylmalonic-acidemia","Source__c":"GARD:0007033","Xref__c":"https://medlineplus.gov/genetics/condition/methylmalonic-acidemia"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1231","Source__c":"Gene Review","Xref__c":"NBK1231"},{"URL__c":"https://www.genome.gov/Genetic-Disorders/MMA-Study-General-Information"}],"tags":{},"synonyms":["elevated circulating methylmalonic acid concentration"," isolated methylmalonic acidemia"," methylmalonic aciduria"," mma"," mma - methylmalonic aciduria"],"spanishId":11859,"spanishName":"acidemia-metilmalonica"}