{"Name":"Inborn carbohydrate metabolic disorder","DiseaseID__c":"GARD:0018946","id":18946,"encodedName":"inborn-carbohydrate-metabolic-disorder","IsDeleted":false,"Disease_Name_Full__c":"Inborn carbohydrate metabolic disorder","Xref_IDs__c":"C0007001; C97089; D002239; DOID:2978; MEDGEN:2825; MONDO:0019214; ORPHA:79161","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019214","Disease_Description__c":"An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.","GARD_Name__c":"Inborn carbohydrate metabolic disorder","GARD_Synonym__c":"carbohydrate metabolism disorder; disorder of carbohydrate metabolism; disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolic process disorder; inborn carbohydrate metabolism disorder; inborn error of carbohydrate metabolic process; inborn errors of carbohydrate metabolism; rare inborn error of carbohydrate metabolic process","Curated_Disease_Description_Source__c":"MONDO:0019214","Curated_Disease_Description__c":"Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.\r\n\r\nCarbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.\r\n\r\nThese disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.\r\n\r\nTreatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79161","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019214","ORPHANET_ID__c":"ORPHA:79161","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del metabolismo de los carbohidratos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad del metabolismo de los carbohidratos","Spanish_GARD_Synonym__c":null,"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":"Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process.\r\n\r\nCarbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If you have one of these disorders, you may not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly. This causes a harmful amount of sugar to build up in your body. That can lead to health problems, some of which can be serious. Some of the disorders are fatal.\r\n\r\nThese disorders are inherited. Newborn babies get screened for many of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder.\r\n\r\nTreatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms.","Curated_Disease_Description_Source__c":"MONDO:0019214","GARD_Synonym__c":"carbohydrate metabolism disorder; disorder of carbohydrate metabolism; disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolic process disorder; inborn carbohydrate metabolism disorder; inborn error of carbohydrate metabolic process; inborn errors of carbohydrate metabolism; rare inborn error of carbohydrate metabolic process","Name":"Inborn carbohydrate metabolic disorder","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0007001","Source__c":"C0007001","Xref__c":"C0007001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2825","Source__c":"C0007001","Xref__c":"MEDGEN:2825"},{"URL__c":"https://www.orpha.net/en/disease/detail/79161","Source__c":"C0007001; MONDO:0019214","Xref__c":"ORPHA:79161"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C97089","Source__c":"MONDO:0019214","Xref__c":"C97089"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002239","Source__c":"C0007001; MONDO:0019214","Xref__c":"D002239"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2978","Source__c":"MONDO:0019214","Xref__c":"DOID:2978"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019214","Source__c":"GARD:0018946","Xref__c":"MONDO:0019214"},{"URL__c":"https://medlineplus.gov/carbohydratemetabolismdisorders.html"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics"]},"synonyms":["carbohydrate metabolism disorder"," disorder of carbohydrate metabolism"," disorder of carbohydrate transport and metabolism"," inborn carbohydrate metabolic process disorder"," inborn carbohydrate metabolism disorder"," inborn error of carbohydrate metabolic process"," inborn errors of carbohydrate metabolism"," rare inborn error of carbohydrate metabolic process"]}