{"orpha":20,"name":"3-hydroxy-3-methylglutaric aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-hydroxy-3-methylglutaryl-CoA lyase deficiency","HMG-CoA lyase deficiency","Hydroxymethylglutaric aciduria"],"definition":"A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-20/","orphanet_url":"https://www.orpha.net/en/disease/detail/20","names":{"fr":{"name":"Acidurie 3-hydroxy-3-méthylglutarique","synonyms":["Acidurie hydroxyméthylglutarique","Déficit en 3-hydroxy-3-méthylglutaryl-CoA lyase","Déficit en HMG-CoA-lyase"],"definition":"Acidurie organique rare due à un déficit en 3-hydroxy-méthylglutaryl-CoA-lyase, caractérisée par des épisodes de décompensation métabolique avec hypoglycémie hypocétosique, déclenchés par des périodes de jeûne ou des infections."},"de":{"name":"3-Hydroxy-3-Methylglutarazidurie","synonyms":["Hydroxymethylglutarazidurie","3-HMG-CoA-Lyase-Mangel","3-Hydroxy-3-Methylglutaryl-CoA-Lyase-Mangel"],"definition":"Eine seltene organische Azidurie aufgrund eines Mangels an 3-Hydroxy-3-Methylglutaryl-CoA-Lyase, die durch Episoden einer metabolischen Dekompensation mit hypoketotischer Hypoglykämie gekennzeichnet ist, die durch Fastenperioden oder Infektionen ausgelöst werden."},"es":{"name":"Aciduria 3-hidroxi-3-metilglutárica","synonyms":["Aciduria hidroxi-metil-glutárica","Deficiencia de 3-hidroxi-3-metilglutaril-CoA liasa","Deficiencia de HMG-CoA liasa"],"definition":"Es una aciduria orgánica poco frecuente debida a la deficiencia de 3-hidroxi-3-metilglutaril-CoA-liasa caracterizada por episodios de descompensación metabólica con hipoglucemia hipocetósica desencadenados por períodos de ayuno o infecciones."},"it":{"name":"Aciduria 3-idrossi-3-metilglutarica","synonyms":["Deficit di 3-idrossi-3-metilglutaril-CoA liasi","Deficit di HMG-CoA liasi","Idrossi-metil-glutaricaciduria"],"definition":"L'aciduria 3-idrossi-3-metilglutarica (3HMG) è un'aciduria organica rara, causata da un deficit di 3-idrossi-metilglutaril-CoA-liasi; è caratterizzata da episodi di scompenso metabolico con ipoglicemia ipochetotica scatenati da periodi di digiuno o dalle infezioni."},"nl":{"name":"3-hydroxy-3-methylglutaaracidurie","synonyms":["3-hydroxy-3-methylglutaryl-CoA-lyasedeficiëntie","HMG-CoA-lyasedeficiëntie","Hydroxymethylglutaaracidurie"],"definition":"Een zeldzame, organische acidurie door deficiëntie van 3-hydroxy-3-methylglutaryl-CoA-lyase, gekarakteriseerd door episodes van metabole decompensatie met hypoketotische hypoglycemie uitgelokt door periodes van vasten of infecties."},"pt":{"name":"Acidúria 3-hidroxi-3-metilglutárica","synonyms":["Acidúria hidroximetilglutárica","Deficiência de 3-hidroxi-3-metilglutaril-CoA liase","Deficiência de HMG-CoA liase"],"definition":"Uma acidúria orgânica rara, causada pela deficiência da enzima 3-hidroxi-3-metilglutaril-CoA liase, caracterizada por episódios de descompensação metabólica com hipoglicemia hipocetótica desencadeados por períodos de jejum ou infeções."},"pl":{"name":"Acyduria 3-hydroksy-3-metyloglutarowa","synonyms":["Acyduria hydroksymetylglutarowa","Niedobór liazy 3-hydroksy-3-metyloglutaro-CoA","Niedobór liazy HMG-CoA"]},"cs":{"name":"3-hydroxy-3-methylglutarová acidurie","synonyms":["Deficit 3-hydroxy-3-methylglutaryl-CoA lyázy","Deficit HMG-COA lyázy","Hydroxymethylglutarová acidurie"]},"uk":{"name":"3-гідрокси-3-метилглутарова ацидурія","synonyms":["Дефіцит 3-гідрокси-3-метилглутарил-КоА-ліази","Дефіцит HMG-КоА-ліази","Гідроксиметилглутарова ацидурія"],"definition":"A rare organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase characterized by episodes of metabolic decompensation with hypoketotic hypoglycemia triggered by periods of fasting or infections."},"zh":{"name":"3-羟基-3甲基戊二酸尿症","synonyms":["3-羟基-3-甲基戊二酸单酰辅酶A裂合酶缺陷"]},"tr":{"name":"3-hidroksi-3-metilglutarik asidüri","synonyms":["HMG-CoA liyaz eksikliği","Hidroksimetilglutarik asidüri","3-hidroksi-3-metilglutaril-CoA liyaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"246450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"795785192"},{"source":"MONDO","code":"0009520","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538324","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268601","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]},{"orpha":309115,"name":"Disorder of fatty acid oxidation and ketogenesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"HMGCL","name":"3-hydroxy-3-methylglutaryl-CoA lyase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19177531[PMID]","hgnc":"5005","ensembl":"ENSG00000117305","omim":"613898","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"19177531[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.8,"area":"Portugal","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"China","status":"Validated","source":"19036343[PMID]_29039164[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-23","source":"28583327[PMID]_3958190[PMID]_6489380[PMID]_6156427[PMID]_85928[PMID]_12565045[PMID]","terms":[{"hpo":"HP:0003344","label":"3-Methylglutaric aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001958","label":"Nonketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006561","label":"Lipid accumulation in hepatocytes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001988","label":"Recurrent hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006582","label":"Reye syndrome-like episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001735","label":"Acute pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001325","label":"Hypoglycemic coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011099","label":"Spastic hemiparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very rare (<4-1%)","criteria":null}]}}