O. Yousef, M. Al-Jafari, Mohammad Jaber, Mutayam Abu-Qudairi, Raja Al-Zreqat, Mohammad Abu-Jeyyab
{"title":"庞贝病,一种罕见的疾病,在两个病人,病例报告","authors":"O. Yousef, M. Al-Jafari, Mohammad Jaber, Mutayam Abu-Qudairi, Raja Al-Zreqat, Mohammad Abu-Jeyyab","doi":"10.58877/japaj.v1i1.23","DOIUrl":null,"url":null,"abstract":"Pompe disease, or type II glycogen storage disease, is a lysosomal storage disorder in which a deficiency in alpha-glucosidase results in the accumulation of glycogen, which eventually causes weakness to progressively increase and heart enlargement. \n Infantile-onset and late-onset forms of Pompe illness are distinguished. The heart is the organ most impacted by glycogen buildup in infantile-onset Pompe illness. A late-onset form, however, frequently presents as a weakening of the skeletal muscles that worsens over time. \nThe key factor used to make the diagnosis of Pompe illness is enzymology, which shows a lack of lysosomal acid alpha-glucosidase (GAA) activity, although molecular genetic testing for GAA mutations can also be used to confirm the diagnosis. \nRecombinant human a glucosidase alfa and a large multidisciplinary team are required for the treatment of patients with Pompe disease (rhGAA, MyozymeR). \nTwo cases of Pompe disease are presented in this case-report. A 13-year-old female patient who is still alive and receiving enzyme replacement therapy, and a 5-month-old newborn who died from cardiomyopathy.","PeriodicalId":364383,"journal":{"name":"JAP Academy Journal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pompe disease, a rare condition in two patients, case reports\",\"authors\":\"O. Yousef, M. Al-Jafari, Mohammad Jaber, Mutayam Abu-Qudairi, Raja Al-Zreqat, Mohammad Abu-Jeyyab\",\"doi\":\"10.58877/japaj.v1i1.23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pompe disease, or type II glycogen storage disease, is a lysosomal storage disorder in which a deficiency in alpha-glucosidase results in the accumulation of glycogen, which eventually causes weakness to progressively increase and heart enlargement. \\n Infantile-onset and late-onset forms of Pompe illness are distinguished. The heart is the organ most impacted by glycogen buildup in infantile-onset Pompe illness. A late-onset form, however, frequently presents as a weakening of the skeletal muscles that worsens over time. \\nThe key factor used to make the diagnosis of Pompe illness is enzymology, which shows a lack of lysosomal acid alpha-glucosidase (GAA) activity, although molecular genetic testing for GAA mutations can also be used to confirm the diagnosis. \\nRecombinant human a glucosidase alfa and a large multidisciplinary team are required for the treatment of patients with Pompe disease (rhGAA, MyozymeR). \\nTwo cases of Pompe disease are presented in this case-report. A 13-year-old female patient who is still alive and receiving enzyme replacement therapy, and a 5-month-old newborn who died from cardiomyopathy.\",\"PeriodicalId\":364383,\"journal\":{\"name\":\"JAP Academy Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JAP Academy Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.58877/japaj.v1i1.23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JAP Academy Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.58877/japaj.v1i1.23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pompe disease, a rare condition in two patients, case reports
Pompe disease, or type II glycogen storage disease, is a lysosomal storage disorder in which a deficiency in alpha-glucosidase results in the accumulation of glycogen, which eventually causes weakness to progressively increase and heart enlargement.
Infantile-onset and late-onset forms of Pompe illness are distinguished. The heart is the organ most impacted by glycogen buildup in infantile-onset Pompe illness. A late-onset form, however, frequently presents as a weakening of the skeletal muscles that worsens over time.
The key factor used to make the diagnosis of Pompe illness is enzymology, which shows a lack of lysosomal acid alpha-glucosidase (GAA) activity, although molecular genetic testing for GAA mutations can also be used to confirm the diagnosis.
Recombinant human a glucosidase alfa and a large multidisciplinary team are required for the treatment of patients with Pompe disease (rhGAA, MyozymeR).
Two cases of Pompe disease are presented in this case-report. A 13-year-old female patient who is still alive and receiving enzyme replacement therapy, and a 5-month-old newborn who died from cardiomyopathy.