{"orpha":308552,"name":"Glycogen storage disease due to acid maltase deficiency, infantile onset","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Alpha-1,4-glucosidase acid deficiency, infantile onset","GSD due to acid maltase deficiency, infantile onset","GSD type 2, infantile onset","GSD type II, infantile onset","Glycogen storage disease type 2, infantile onset","Glycogen storage disease type II, infantile onset","Glycogenosis due to acid maltase deficiency, infantile onset","Glycogenosis type 2, infantile onset","Glycogenosis type II, infantile onset","Pompe disease, infantile onset"],"definition":"Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-308552/","orphanet_url":"https://www.orpha.net/en/disease/detail/308552","names":{"fr":{"name":"Glycogénose par déficit en maltase acide à début infantile","synonyms":["Déficit en alpha-1,4-glucosidase acide à début infantile","Glycogénose type 2 à début infantile","Glycogénose type II à début infantile","Maladie de Pompe à début infantile"],"definition":"Forme la plus grave de glycogénose par déficit en maltase acide, caractérisée par une cardiomégalie accompagnée d'une détresse respiratoire, d'une faiblesse musculaire et de difficultés à s'alimenter. Cette forme est souvent létale."},"de":{"name":"Glykogenose Typ 2, infantile Form","synonyms":["Glykogen-Speicherkrankheit Typ 2, infantile Form","Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel, infantile Form","Glykogen-SpeicherkrankheitTyp II, infantile Form","Glykogenose Typ II, infantile Form","Glykogenose durch Saure-Maltase-Mangel, infantile Form","Pompe-Krankheit, infantile Form","Alpha-1,4-Glukosidase-Mangel, infantile Form","GSD Typ 2, infantile Form","GSD Typ II, infantile Form","GSD durch Saure-Maltase-Mangel, infantile Form"],"definition":"Die Glykogenspeicherkrankheit durch Säuremaltasemangel mit infantilem Beginn ist die schwerste Form der Glykogenspeicherkrankheit aufgrund von Säuremaltasemangel, die durch Kardiomegalie mit Atemnot, Muskelschwäche und Fütterungsschwierigkeiten gekennzeichnet ist. Sie ist oft tödlich."},"es":{"name":"Enfermedad por almacenamiento de glucógeno por deficiencia de maltasa ácida de inicio en la lactancia","synonyms":["Deficiencia de alfa-1,4-glucosidasa ácida de inicio en la lactancia","Enfermedad de Pompe de inicio en la lactancia","Enfermedad de almacenamiento de glucógeno tipo 2 de inicio en la lactancia","Enfermedad de almacenamiento de glucógeno tipo II de inicio en la lactancia","GSD por deficiencia de maltasa ácida de inicio en la lactancia","GSD tipo 2 de inicio en la lactancia","GSD tipo II de inicio en la lactancia","Glucogenosis por deficiencia de maltasa ácida de inicio en la lactancia","Glucogenosis tipo 2 de inicio en la lactancia","Glucogenosis tipo II de inicio en la lactancia"],"definition":"La enfermedad por almacenamiento de glucógeno debida a la deficiencia de maltasa ácida, de inicio en la lactancia, es la forma más grave de la enfermedad por almacenamiento de glucógeno debida a la deficiencia de maltasa ácida. Está caracterizada por cardiomegalia con dificultad respiratoria, debilidad muscular y dificultades de alimentación. Suele ser mortal."},"it":{"name":"Malattia da deposito di glicogeno da deficit di maltasi acida ad esordio infantile","synonyms":["Deficit di alfa-1,4-glucosidasi acida a esordio infantile","GSD da deficit di maltasi acida, a esordio infantile","GSD tipo 2, a esordio infantile","Glicogenosi da deficit di maltasi acida, a esordio infantile","Glicogenosi tipo 2, a esordio infantile","Malattia da deposito di glicogeno tipo 2, a esordio infantile","Malattia di Pompe a esordio infantile"],"definition":"La malattia da deposito di glicogeno da deficit di maltasi acida ad esordio infantile è la forma più grave della malattia da deposito di glicogeno secondaria al deficit della maltasi acida. È caratterizzata da cardiomegalia con distress respiratorio, debolezza muscolare e difficoltà di alimentazione. Spesso la malattia è letale."},"nl":{"name":"Glycogeenstapelingsziekte door zure-maltasedeficiëntie, infantiele aanvang","synonyms":["Glycogenose type 2, infantiele aanvang","Glycogenose type II, infantiele aanvang","Ziekte van Pompe, infantiele aanvang","Deficiëntie van zure alfa-1,4-glucosidase, infantiele aanvang","GSD door zure-maltasedeficiëntie, infantiele aanvang","GSD type 2, infantiele aanvang","GSD type II, infantiele aanvang","Glycogeenstapelingsziekte type 2, infantiele aanvang","Glycogeenstapelingsziekte type II, infantiele aanvang","Glycogenose door zure-maltasedeficiëntie, infantiele aanvang"],"definition":"Glycogeenstapelingsziekte als gevolg van zure maltasedeficiëntie, met infantiele aanvang, is de meest ernstige vorm van glycogeenstapelingsziekte door zure maltasedeficiëntie, en wordt gekarakteriseerd door cardiomegalie met ademnood, spierzwakte en voedingsproblemen. De ziekte is vaak fataal."},"pt":{"name":"Doença de armazenamento de glicogénio por deficiência de maltase ácida, início na infância","synonyms":["Deficiência de alfa-1,4-glucosidase ácida, de início na infância","Doença de Pompe, início na infância","Doença de armazenamento do glicogénio tipo 2, início na infância","Doença de armazenamento do glicogénio tipo II, início na infância","GSD por deficiência de maltase ácida, início na infância","GSD tipo 2, início na infância","GSD tipo II, início na infância","Glicogenose por deficiência de maltase ácida, início na infância","Glicogenose tipo 2, início na infância","Glicogenose tipo II, início na infância"]},"pl":{"name":"Choroba spichrzania glikogenu z powodu niedoboru kwaśnej maltazy, o początku w wieku niemowlęcym","synonyms":["Choroba Pompego, o początku w wieku niemowlęcym","Choroba spichrzania glikogenu typu 2, o początku w wieku niemowlęcym","Glikogenoza typu 2, o początku w wieku niemowlęcym","Glikogenoza z powodu niedoboru kwaśnej maltazy, o początku w wieku niemowlęcym","GSD typu 2, o początku w wieku niemowlęcym","GSD z powodu niedoboru kwaśnej maltazy, o początku w wieku niemowlęcym","Niedobór kwaśnej alfa-1,4-glukozydazy, o początku w wieku niemowlęcym"]},"cs":{"name":"Glykogenóza způsobená deficitem kyselé maltázy, začátek v kojeneckém věku","synonyms":["Deficit kyselé alfa-1,4-glukosidázy, začátek v kojeneckém věku","GSD způsobená deficitem kyselé maltázy, začátek v kojeneckém věku","GSD typ 2, začátek v kojeneckém věku","GSD typ II, začátek v kojeneckém věku","Glykogenóza, typ 2, začátek v kojeneckém věku","Glykogenóza, typ II, začátek v kojeneckém věku","Pompeho choroba, začátek v kojeneckém věku"]},"uk":{"name":"Хвороба накопичення глікогену, зумовлена дефіцитом кислої мальтази, інфантильний початок","synonyms":["Дефіцит альфа-1,4-глюкозидазної кислоти, інфантильний початок","Глікогенова хвороба 2 типу, інфантильний початок","Глікогенова хвороба II типу, інфантильний початок","Глікогеноз внаслідок дефіциту кислої мальтази, початок у дитячому віці","Глікогеноз 2 типу, інфантильний початок","Глікогеноз II типу, інфантильний початок","GSD внаслідок дефіциту кислої мальтази, початок у дитячому віці","GSD типу 2, інфантильний початок","GSD II типу, початок у дитячому віці","Хвороба Помпе, інфантильний початок"],"definition":"Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal."},"zh":{"name":"婴儿起病的酸性麦芽糖酶缺乏致糖原贮积病","synonyms":["婴儿起病的酸性麦芽糖酶缺乏所致糖原贮积病"],"definition":"酸性麦芽糖酶缺乏引起的糖原贮积病，婴儿期发病是其中最严重的一种，其特征是心脏肿大伴呼吸窘迫、肌无力和喂养困难。它通常是致命的。"},"tr":{"name":"Asit maltaz eksikliğine bağlı glikojen depo hastalığı, infantil başlangıç","synonyms":["GSD tip 2, infantil başlangıçlı","GSD tip II, infantil başlangıçlı","Pompe hastalığı, infantil başlangıçlı","Glikojenoz tip 2, infantil başlangıçlı","Glikojenoz tip II, infantil başlangıçlı","Glikojen depo hastalığı tip 2, infantil başlangıçlı","glikojen depo hastalığı tip II, infantil başlangıçlı","Asit maltaz eksiklğine bağlı GSD, infantil başlangıçlı","Alfa-1,4-glukozidaz asit eksikliği, infantil başlangıçlı","Asit maltaz eksikliğine bağlı glikojenoz, infantil başlangıçlı"]}},"xrefs":[{"source":"OMIM","code":"232300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C51.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1496243702"},{"source":"MONDO","code":"0017694","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888924","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":365,"name":"Glycogen storage disease due to acid maltase deficiency","classifications":[146,150,156,181,233]}],"children":[],"genes":[{"symbol":"GAA","name":"alpha glucosidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4065","ensembl":"ENSG00000171298","omim":"606800","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Taiwan, Province of China","status":"Validated","source":"18519449[PMID]_24243590[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"Netherlands","status":"Validated","source":"10482961[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-27","source":"20301438[PMID]_30117059[PMID]_32518148[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025336","label":"Delayed ability to sit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031964","label":"Elevated circulating alanine aminotransferase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040329","label":"Multifocal hyperintensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010471","label":"Oligosacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009805","label":"Low-output congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005165","label":"Shortened PR interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null}]}}