{"orpha":103907,"name":"Chronic diarrhea due to glucoamylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Maltase-glucoamylase deficiency"],"definition":"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-103907/","orphanet_url":"https://www.orpha.net/en/disease/detail/103907","names":{"fr":{"name":"Diarrhée chronique par déficit en glucoamylase","synonyms":["Déficit en maltase-glucoamylase"],"definition":"Maladie intestinale rare caractérisée par un trouble de l'absorption de l'amidon et des polymères courts de glucose dû à un déficit primaire en glucoamylase produite par la paroi de l'intestin grêle. Pendant la période néonatale ou la petite enfance, les patients présentent une diarrhée chronique, une distension abdominale et des ballonnements. Les taux d'amylase pancréatique sont généralement normaux, et la morphologie de la muqueuse intestinale, examinée par analyse histopathologique, est normale."},"de":{"name":"Diarrhoe, chronische, durch Glucoamylase-Mangel","definition":"Eine seltene Darmerkrankung, die durch eine gestörte Absorption von Stärke und kurzen Glukosepolymeren aufgrund eines primären intestinalen Glucoamylase-Mangels gekennzeichnet ist. Die Patienten zeigen im Säuglingsalter oder in der frühen Kindheit chronische Diarrhöe, abdominale Distension und Blähungen. Der Pankreas-Amylase-Spiegel ist in der Regel normal, und die histopathologische Analyse zeigt eine normale Morphologie der Darmschleimhaut."},"es":{"name":"Diarrea crónica por deficiencia de glucoamilasa","definition":"Es una enfermedad intestinal poco frecuente caracterizada por una absorción deficiente del almidón y de las cadenas cortas de polímeros de glucosa debido a una deficiencia primaria de glucoamilasa en el intestino delgado. Los pacientes se presentan en la lactancia o en la infancia temprana con diarrea crónica, distensión abdominal e hinchazón. Los niveles de amilasa pancreática suelen ser normales y el análisis histopatológico muestra una morfología normal de la mucosa intestinal."},"it":{"name":"Diarrea cronica da deficit di glucoamilasi","synonyms":["Deficit di maltasi-glucoamilasi"],"definition":"Si tratta di una malattia intestinale rara, caratterizzata dalla compromissione dell'assorbimento dell'amido e dei polimeri corti del glucosio, causata da un deficit primario della glucoamilasi intestinale. La malattia esordisce nella prima infanzia o nell'infanzia con diarrea cronica, distensione addominale e gonfiore. Di solito i livelli di amilasi pancreatica sono normali e l'esame istopatologico evidenzia una morfologia normale della mucosa intestinale."},"nl":{"name":"Chronische diarree door deficiëntie van glucoamylase","synonyms":["Deficiëntie van maltase-glucoamylase"],"definition":"Een zeldzame aandoening van darm, gekarakteriseerd door verstoorde absorptie van zetmeel en korte polymeren van glucose door primaire deficiëntie van glucoamylase in dunne darm. Patiënten presenteren zich in de zuigelingentijd of vroege kindertijd met chronische diarree, gezwollen abdomen, en opgeblazen gevoel. Gehaltes van pancreatisch amylase zijn doorgaans normaal, en histopathologische analyse toont normale morfologie van darmslijmvlies."},"pt":{"name":"Diarreia crónica por deficiência de glucoamilase","definition":"Esta síndrome é caracterizada por diarréia crónica na infância associada com deficiência da glucoamilase intestinal."},"pl":{"name":"Przewlekla biegunka z powodu niedoboru glukoamylazy","synonyms":["Niedobór maltazy - glukoamylazy"]},"cs":{"name":"Chronický průjem způsobený deficitem glukoamylázy","synonyms":["Deficit maltázy-glukoamylázy"]},"uk":{"name":"Хронічна діарея через дефіцит глюкоамілази","synonyms":["Дефіцит мальтазо-глюкоамілазної недостатності"],"definition":"A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa."},"zh":{"name":"糖化酶缺乏所致慢性腹泻","synonyms":["麦芽糖酶-葡糖糖化酶缺陷"],"definition":"糖化酶缺乏所致慢性腹泻是该综合征的特征是婴儿或儿童期慢性腹泻伴肠道糖化酶缺乏。"},"tr":{"name":"Glukoamilaz eksikliğine bağlı kronik ishal","synonyms":["Maltaz-glukoamilaz eksikliği"]}},"xrefs":[{"source":"ICD-10","code":"E74.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C61.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2084206046"},{"source":"MONDO","code":"0015169","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275068","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104006,"name":"Congenital intestinal disease due to an enzymatic defect","classifications":[152,156]},{"orpha":309001,"name":"Disorder of carbohydrate absorption and transport","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-17","source":"8151467[PMID]_12394383[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025129","label":"Abnormal small intestinal mucosa morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025130","label":"Decreased small intestinal mucosa lactase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410281","label":"Dyspepsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}