{"orpha":438075,"name":"Ketoacidosis due to monocarboxylate transporter-1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438075/","orphanet_url":"https://www.orpha.net/en/disease/detail/438075","names":{"fr":{"name":"Cétoacidose par déficit en transporteur 1 de monocarboxylate","definition":"Trouble rare du transport des corps cétoniques, caractérisé par des épisodes récurrents d'acidocétose provoqués par le jeûne ou des infections au cours des premières années de vie. Les épisodes sont généralement précédés d'une mauvaise alimentation et de vomissements et sont associés à une déshydratation, et dans les cas graves, à une perte progressive de conscience et à une insuffisance de la pulsion respiratoire. L'hypoglycémie n'est que rarement observée. Chez les patients présentant des mutations homozygotes, la maladie tend à se déclarer à un âge plus précoce et s'accompagne d'une acidocétose plus profonde ainsi que d'un retard de développement psychomoteur léger à modéré."},"de":{"name":"Ketoazidose durch Monocarboxylat-Transporter 1-Mangel","definition":"Eine genetisch bedingte Störung des Ketonkörpertransports, die durch einen Mangel des Monocarboxylattransporters 1 aufgrund einer Genmutation im <I>SLC16A1</I>-Gen verursacht wird. Die Störung ist durch wiederkehrende Episoden von Ketoazidosen gekennzeichnet, die durch Fasten oder Infektionen in den ersten Lebensjahren ausgelöst werden. Den Episoden gehen in der Regel schlechte Nahrungsaufnahme und Erbrechen voraus, sie sind mit Dehydratation und in schweren Fällen mit Bewusstseinsstörungen und unzureichender Atmung verbunden. Hypoglykämie ist selten. Patienten mit homozygoten Mutationen manifestieren sich in der Regel in jüngerem Alter, zeigen eine ausgeprägtere Ketoazidose und können zusätzlich eine leichte bis mäßige Entwicklungsverzögerung aufweisen."},"es":{"name":"Cetoacidosis por deficiencia del transportador de monocarboxilato 1","definition":"Es un trastorno del transporte de cuerpos cetónicos poco frecuente caracterizado por episodios recurrentes de cetoacidosis desencadenados por el ayuno o infecciones en los primeros años de vida. Los episodios suelen ir precedidos de alimentación deficiente y vómitos y se asocian con deshidratación y, en casos graves, con disminución del nivel de conciencia e insuficiencia respiratoria. La hipoglucemia se observa muy infrecuentemente. En pacientes con mutaciones en homocigosis, la enfermedad tiende a debutar a una edad más temprana con cetoacidosis más profunda y, además, pueden presentar un retraso del desarrollo psicomotor de leve a moderado."},"it":{"name":"Chetoacidosi da deficit del trasportatore 1 dei monocarbossilati","definition":"Si tratta di una malattia rara del trasporto dei corpi chetonici, caratterizzata da episodi ricorrenti di chetoacidosi scatenati dal digiuno o dalle infezioni nei primi anni di vita. Di solito gli episodi sono preceduti dalla scarsa alimentazione e dal vomito, e si associano alla disidratazione e, nei casi più gravi, anche ad una riduzione dello stato di coscienza e ad un'insufficiente capacità respiratoria. L'ipoglicemia è rara. Nei pazienti con mutazioni omozigoti, la malattia tende ad insorgere più precocemente, la chetoacidosi è più grave e può essere presente un ritardo dello sviluppo lieve-moderato."},"nl":{"name":"Ketoacidose als gevolg van monocarboxylaattransporter 1-deficiëntie","definition":"Een zeldzame aandoening van transport van ketolichamen, gekarakteriseerd door recidiverende episodes van ketoacidose uitgelokt door vasten of infectie in het eerste levensjaar. De episodes worden doorgaans voorafgegaan door onvoldoende voeding en braken, en zijn geassocieerd met dehydratie, en in ernstige gevallen ook met verminderd bewustzijn en gebrekkige ademprikkel. Hypoglycemie wordt slechts sporadisch waargenomen Patiënten met homozygote mutaties presenteren zich eerder op jongere leeftijd, lijden aan ernstigere ketoacidose, en vertonen bijkomstig mogelijk milde tot matige ontwikkelingsachterstand."},"pt":{"name":"Cetoacidose por défice do transportador monocarboxilato-1"},"pl":{"name":"Kwasica ketonowa spowodowana niedoborem transportera-1 monokarboksylanu"},"cs":{"name":"Ketoacidóza způsobená deficitem monokarboxylového transportéru 1"},"uk":{"name":"Кетоацидоз, зумовлений дефіцитом монокарбоксилатного транспортера-1","definition":"A rare disorder of ketone body transport characterized by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition."},"zh":{"name":"单羧酸盐转运蛋白1缺乏症所致酮症酸中毒","definition":"酮体运输的一种罕见疾病，其特征是在生命最初几年因禁食或感染引起的酮症酸中毒反复发作。这种发作在进食不良和呕吐后发生，并且与脱水有关，在严重的情况下还会导致意识下降和呼吸动力不足。低血糖症很少见。具有纯合突变的患者倾向于在年轻时发病，患有更严重的酮症酸中毒，此外还可能出现轻度至中度的发育延迟。"},"tr":{"name":"Monokarboksilat taşıyıcı-1 eksikliğine bağlı ketoasidoz"}},"xrefs":[{"source":"OMIM","code":"616095","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.02","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015186","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":438072,"name":"Disorder of keton body transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC16A1","name":"solute carrier family 16 member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25390740[PMID]","hgnc":"10922","ensembl":"ENSG00000155380","omim":"600682","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"25390740[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25390740[PMID]"}],"phenotypes":null}