{"orpha":35701,"name":"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HMG-CoA synthase deficiency"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35701/","orphanet_url":"https://www.orpha.net/en/disease/detail/35701","names":{"fr":{"name":"Déficit en 3-hydroxy-3-méthylglutaryl-CoA synthétase","synonyms":["Déficit en HMG-CoA synthétase"],"definition":"Trouble rare du métabolisme des corps cétoniques, transmis selon le mode autosomique récessif, rapporté chez moins de 20&nbsp;patients à ce jour, caractérisé sur le plan clinique par des épisodes de décompensation (souvent associés à une gastro-entérite ou à un jeûne) qui se manifestent par des vomissements, une léthargie, une hépatomégalie, une hypoglycémie non cétosique et, dans de rares cas, par un coma. Les patients sont le plus souvent asymptomatiques entre les épisodes aigus. Le déficit en HMG-CoA synthase nécessite un diagnostic précoce afin d'éviter les crises d'hypoglycémie qui peuvent entraîner des lésions cérébrales permanentes ou le décès."},"de":{"name":"3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel"},"es":{"name":"Deficiencia de 3-hidroxi 3-metilglutaril-CoA (HMG) sintasa","definition":"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."},"it":{"name":"Deficit di 3-idrossi-3-metilglutaril-CoA sintetasi","definition":"Il deficit di 3-idrossi-3-metilglutaril-CoA sintetasi (deficit di sintetasi HMG-CoA) è un difetto raro del metabolismo dei corpi chetonici (si veda questo termine), descritto in meno di 20 pazienti; la trasmissione è autosomica recessiva. È caratterizzato da episodi di scompenso (spesso associati a gastroenteriti o digiuno) che esordiscono con vomito, letargia, epatomegalia, ipoglicemia non chetotica e, in rari casi, coma. I pazienti sono spesso asintomatici tra un episodio acuto e l'altro. Il deficit di sintetasi HMG-CoA necessita di una diagnosi precoce per prevenire le crisi ipoglicemiche che esitano in danni cerebrali permanenti o addirittura nella morte."},"nl":{"name":"3-hydroxy-3-methylglutaryl-CoA-synthasedeficiëntie","synonyms":["HMG-CoA-synthasedeficiëntie"],"definition":"3-hydroxy-3-methylglutaryl-CoA-synthasedeficiëntie (HMG-CoA-synthasedeficiëntie) is een zeldzame, autosomaal recessief overgeërfde stoornis van het ketonlichaammetabolisme (zie deze term) die tot op heden in minder dan 20 patiënten werd gerapporteerd, en die klinisch gekarakteriseerd wordt door episodes van decompensatie (vaak geassocieerd met gastro-enteritis of vasten) met braken, lethargie, hepatomegalie, non-ketotische hypoglycemie en, in zeldzame gevallen, coma. Tussen acute episodes zijn patiënten doorgaans asymptomatisch. HMG-CoA-synthasedeficiëntie vereist een vroege diagnose om hypoglycemische crises te vermijden die kunnen leiden tot permanente hersenschade of overlijden."},"pt":{"name":"Deficiência de 3-hidroxi-3-metilglutaril-CoA sintetase"},"pl":{"name":"Niedobór syntetazy 3-hydroksy-3-metyloglutarylo-CoA","synonyms":["Niedobór syntetazy HMG-CoA"]},"cs":{"name":"Deficit 3-hydroxy-3-methylglutaryl-CoA syntázy","synonyms":["Deficit HMG-CoA syntázy"]},"uk":{"name":"Дефіцит 3-гідрокси-3-метилглутарил-КоА-синтази","synonyms":["Дефіцит HMG-КоА-синтази"],"definition":"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."},"zh":{"name":"3-羟基-3-甲基戊二酰辅酶A合成酶缺乏症","synonyms":["HMG-CoA合酶缺乏症"]},"tr":{"name":"3-hidroksi-3-metilglutaril-CoA sentaz eksikliği","synonyms":["HMG-CoA sentaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"605911","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"608791742"},{"source":"MONDO","code":"0011614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510940","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309115,"name":"Disorder of fatty acid oxidation and ketogenesis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"HMGCS2","name":"3-hydroxy-3-methylglutaryl-CoA synthase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11479731[PMID]_23751782[PMID]","hgnc":"5008","ensembl":"ENSG00000134240","omim":"600234","loci":["1p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"23751782[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}