{"Name":"Methylcrotonyl-CoA carboxylase deficiency","DiseaseID__c":"GARD:0010954","id":10954,"encodedName":"methylcrotonyl-coa-carboxylase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Methylcrotonyl-CoA carboxylase deficiency","Xref_IDs__c":"13144005; C4551505; C98674; DOID:0050710; MEDGEN:1633312; MONDO:0018950; OMIMPS:210200; ORPHA:6","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018950","Disease_Description__c":"A rare inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.","GARD_Name__c":"Methylcrotonyl-CoA carboxylase deficiency","GARD_Synonym__c":"3 methylcrotonylglycinuria; 3-mcc deficiency; 3-methylcrotonyl-coa carboxylase deficiency; 3-methylcrotonylglycinuria; 3mcc deficiency; beta-methylcrotonylglycinuria, type 1; bmcc deficiency; deficiency of methylcrotonoyl-coa carboxylase; mcc deficiency; mccd; methylcrotonyl-coenzyme a carboxylase deficiency","Curated_Disease_Description_Source__c":"GARD:0010954","Curated_Disease_Description__c":"3-methylcrotonyl-CoA carboxylase deficiency (also called MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins. People with this disorder have a shortage of an enzyme that helps break down proteins that contain a particular building block (amino acid) called leucine. The signs and symptoms of MCC deficiency can vary among individuals, even among individuals in the same family. Some people with the genetic changes that cause MCC deficiency will not develop symptoms until adulthood, while many will never develop signs or symptoms. Some affected individuals develop signs and symptoms in infancy or early childhood after an event such as an infection, a long period without food, or the introduction of a high-protein diet. Features of MCC deficiency may include feeding difficulties, delayed development, vomiting, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, MCC deficiency can lead to seizures; breathing difficulties; and comas, which can be life-threatening.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:6","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018950","ORPHANET_ID__c":"ORPHA:6","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de 3-metilcrotonil-coa carboxilasa","Spanish_Description_Source__c":"ORPHA:6","Spanish_Description__c":"Es un trastorno hereditario poco frecuente del metabolismo de la leucina, caracterizado por un cuadro clínico muy variable que va desde crisis metabólicas en la lactancia hasta adultos asintomáticos.","Spanish_Disease_Name__c":"deficiencia de 3-metilcrotonil-coa carboxilasa","Spanish_GARD_Synonym__c":"3-metilcrotonil glicinuria; deficiencia de mcc; mccd","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":"3-methylcrotonyl-CoA carboxylase deficiency (also called MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins. People with this disorder have a shortage of an enzyme that helps break down proteins that contain a particular building block (amino acid) called leucine. The signs and symptoms of MCC deficiency can vary among individuals, even among individuals in the same family. Some people with the genetic changes that cause MCC deficiency will not develop symptoms until adulthood, while many will never develop signs or symptoms. Some affected individuals develop signs and symptoms in infancy or early childhood after an event such as an infection, a long period without food, or the introduction of a high-protein diet. Features of MCC deficiency may include feeding difficulties, delayed development, vomiting, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, MCC deficiency can lead to seizures; breathing difficulties; and comas, which can be life-threatening.","Curated_Disease_Description_Source__c":"GARD:0010954","GARD_Synonym__c":"3 methylcrotonylglycinuria; 3-mcc deficiency; 3-methylcrotonyl-coa carboxylase deficiency; 3-methylcrotonylglycinuria; 3mcc deficiency; beta-methylcrotonylglycinuria, type 1; bmcc deficiency; deficiency of methylcrotonoyl-coa carboxylase; mcc deficiency; mccd; methylcrotonyl-coenzyme a carboxylase deficiency","Name":"Methylcrotonyl-CoA carboxylase deficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"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":"All ages","Provided_By__c":"ORPHA:6"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/3-MCC"},{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/3-MCC-mat"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268600"},{"Type__c":"GTR","Curie__c":"MEDGEN:CN028786"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010954","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/6","Source__c":"C4551505; MONDO:0018950; ORPHA:6","Xref__c":"ORPHA:6"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS210200","Source__c":"MONDO:0018950","Xref__c":"OMIMPS:210200"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=13144005","Source__c":"C4551505; MONDO:0018950","Xref__c":"13144005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050710","Source__c":"MONDO:0018950","Xref__c":"DOID:0050710"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551505","Source__c":"C4551505","Xref__c":"C4551505"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98674","Source__c":"C4551505; MONDO:0018950","Xref__c":"C98674"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1633312","Source__c":"C4551505","Xref__c":"MEDGEN:1633312"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018950","Source__c":"GARD:0010954","Xref__c":"MONDO:0018950"},{"URL__c":"https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency","Source__c":"GARD:0010954","Xref__c":"https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MCCC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mccc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MCCC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mccc2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excretion of non-amino organic acids in urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001992","HPO_Name__c":"Organic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:6","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal circulation of leucine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004357","HPO_Name__c":"Abnormal circulating leucine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:6","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["3 methylcrotonylglycinuria"," 3-mcc deficiency"," 3-methylcrotonyl-coa carboxylase deficiency"," 3-methylcrotonylglycinuria"," 3mcc deficiency"," beta-methylcrotonylglycinuria, type 1"," bmcc deficiency"," deficiency of methylcrotonoyl-coa carboxylase"," mcc deficiency"," mccd"," methylcrotonyl-coenzyme a carboxylase deficiency"]}