{"Name":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","DiseaseID__c":"GARD:0017390","id":17390,"encodedName":"methylmalonic-acidemia-due-to-methylmalonyl-coa-epimerase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","Xref_IDs__c":"765137006; C1855100; C565386; MEDGEN:344419; MONDO:0009615; OMIM:251120; ORPHA:308425","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009615","Disease_Description__c":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.","GARD_Name__c":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","GARD_Synonym__c":"deficiency of methylmalonyl-coa epimerase; deficiency of methylmalonyl-coa racemase; deficiency of methylmalonyl-coenzyme a epimerase; deficiency of methylmalonyl-coenzyme a racemase; mcee deficiency; mcee-related methylmalonic acidemia; methylmalonic acidemia due to methylmalonyl-coa racemase deficiency; methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency; methylmalonic aciduria due to methylmalonyl-coa racemase deficiency; methylmalonic aciduria iii; methylmalonyl-coa racemase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009615","Curated_Disease_Description__c":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:308425","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009615","ORPHANET_ID__c":"ORPHA:308425","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Acidemia metilmalónica por deficiencia de metilmalonil-coa epimerasa","Spanish_Description_Source__c":"ORPHA:308425","Spanish_Description__c":"La acidemia metilmalónica por deficiencia de metilmalonil-CoA epimerasa es un error congénito del metabolismo poco frecuente caracterizado por una elevación persistente, leve o moderada, del ácido metilmalónico en plasma, orina y líquido cefalorraquídeo. La presentación clínica puede incluir descompensación metabólica aguda con acidosis metabólica (vómitos, deshidratación, confusión, alucinaciones) y síntomas neurológicos inespecíficos, aunque puede incluso ser asintomática.","Spanish_Disease_Name__c":"acidemia metilmalónica por deficiencia de metilmalonil-coa epimerasa","Spanish_GARD_Synonym__c":"acidemia metilmalónica por deficiencia de metilmalonil-coa racemasa; aciduria metilmalónica por deficiencia de metilmalonil-coa epimerasa; aciduria metilmalónica por deficiencia de metilmalonil-coa racemasa; deficiencia de mcee","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":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.","Curated_Disease_Description_Source__c":"MONDO:0009615","GARD_Synonym__c":"deficiency of methylmalonyl-coa epimerase; deficiency of methylmalonyl-coa racemase; deficiency of methylmalonyl-coenzyme a epimerase; deficiency of methylmalonyl-coenzyme a racemase; mcee deficiency; mcee-related methylmalonic acidemia; methylmalonic acidemia due to methylmalonyl-coa racemase deficiency; methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency; methylmalonic aciduria due to methylmalonyl-coa racemase deficiency; methylmalonic aciduria iii; methylmalonyl-coa racemase deficiency","Name":"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:308425"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:308425"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1231","Source__c":"Gene Review","Xref__c":"NBK1231"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855100","Source__c":"C1855100","Xref__c":"C1855100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765137006","Source__c":"MONDO:0009615","Xref__c":"765137006"},{"URL__c":"https://www.omim.org/entry/251120","Source__c":"C1855100; MONDO:0009615; ORPHA:308425","Xref__c":"OMIM:251120"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344419","Source__c":"C1855100","Xref__c":"MEDGEN:344419"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565386","Source__c":"MONDO:0009615","Xref__c":"C565386"},{"URL__c":"https://www.orpha.net/en/disease/detail/308425","Source__c":"C1855100; MONDO:0009615","Xref__c":"ORPHA:308425"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1293018007","Source__c":"C1855100","Xref__c":"1293018007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009615","Source__c":"GARD:0017390","Xref__c":"MONDO:0009615"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MCEE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mcee","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of methylmalonic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012120","HPO_Synonym__c":"High blood methylmalonic acid levels; Methymalonicaciduria","HPO_Name__c":"Methylmalonic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031544","HPO_Synonym__c":"Elevated circulating O-propionylcarnitine concentration; Elevated plasma palmitoleylcarnitine, C16:1; Elevated plasma propionylcarnitine, C3:0; Elevated propionylcarnitine level","HPO_Name__c":"Elevated circulating palmitoleylcarnitine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002919","HPO_Synonym__c":"Ketonaciduria; Ketone bodies in urine","HPO_Name__c":"Ketonuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:251120","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["deficiency of methylmalonyl-coa epimerase"," deficiency of methylmalonyl-coa racemase"," deficiency of methylmalonyl-coenzyme a epimerase"," deficiency of methylmalonyl-coenzyme a racemase"," mcee deficiency"," mcee-related methylmalonic acidemia"," methylmalonic acidemia due to methylmalonyl-coa racemase deficiency"," methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency"," methylmalonic aciduria due to methylmalonyl-coa racemase deficiency"," methylmalonic aciduria iii"," methylmalonyl-coa racemase deficiency"]}