{"Name":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","DiseaseID__c":"GARD:0002712","id":2712,"encodedName":"3-hydroxy-3-methylglutaryl-coa-synthase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","Xref_IDs__c":"725286002; C2751532; C567784; DOID:0081168; MEDGEN:414399; MONDO:0011614; OMIM:605911; ORPHA:35701","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011614","Disease_Description__c":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism (see this term), reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.","GARD_Name__c":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","GARD_Synonym__c":"3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency; hmg-coa synthase deficiency; hmg-coa synthase-2 deficiency; hmgcs2 deficiency; hmgcs2d; mitochondrial hmg-coa synthase deficiency","Curated_Disease_Description_Source__c":"MONDO:0011614","Curated_Disease_Description__c":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:35701","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011614","ORPHANET_ID__c":"ORPHA:35701","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de 3-hidroxi 3-metilglutaril-coa (hmg) sintasa","Spanish_Description_Source__c":"ORPHA:35701","Spanish_Description__c":"Es un trastorno poco frecuente del metabolismo de los cuerpos cetónicos de herencia autosómica recesiva descrito hasta la fecha en menos de 20 pacientes. Está caracterizado clínicamente por episodios de descompensación (a menudo asociados a gastroenteritis o ayuno) que se presenta con vómitos, letargia, hepatomegalia, hipoglucemia no cetósica y, en casos excepcionales, coma. La mayoría de los afectados son asintomáticos entre los episodios agudos. Este trastorno requiere un diagnóstico precoz para evitar crisis hipoglucemiantes que puedan provocar un daño cerebral irreversible o la muerte.","Spanish_Disease_Name__c":"deficiencia de 3-hidroxi 3-metilglutaril-coa (hmg) sintasa","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":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute episodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.","Curated_Disease_Description_Source__c":"MONDO:0011614","GARD_Synonym__c":"3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency; hmg-coa synthase deficiency; hmg-coa synthase-2 deficiency; hmgcs2 deficiency; hmgcs2d; mitochondrial hmg-coa synthase deficiency","Name":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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:35701"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2751532"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002712","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567784","Source__c":"MONDO:0011614","Xref__c":"C567784"},{"URL__c":"https://www.omim.org/entry/605911","Source__c":"C2751532; MONDO:0011614; ORPHA:35701","Xref__c":"OMIM:605911"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414399","Source__c":"C2751532","Xref__c":"MEDGEN:414399"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751532","Source__c":"C2751532","Xref__c":"C2751532"},{"URL__c":"https://www.orpha.net/en/disease/detail/35701","Source__c":"C2751532; MONDO:0011614","Xref__c":"ORPHA:35701"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725286002","Source__c":"MONDO:0011614","Xref__c":"725286002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081168","Source__c":"MONDO:0011614","Xref__c":"DOID:0081168"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011614","Source__c":"GARD:0002712","Xref__c":"MONDO:0011614"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HMGCS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:35701","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35701","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:35701","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency"," hmg-coa synthase deficiency"," hmg-coa synthase-2 deficiency"," hmgcs2 deficiency"," hmgcs2d"," mitochondrial hmg-coa synthase deficiency"]}