Pompe disease, also known as acid maltase deficiency (AMD) or glycogen storage disease II, is a rare, inherited glycogen storage disease. that afects the heart and skeletal muscles. There are two types of Pompe disease: infantile-onset and noninfantile-onset (juvenile or adult). Pompe is classified as a metabolic muscle disorder, one of a group Nidhi Shirol, India's first Pompe disease patient, passed away last month at the age of 24 years after battling the disease. She spent the last six years in a semi-comatose state. In 2010, her father Prasanna Shirol started the Organisation for Rare Diseases India (ORDI), the first NGO in the country for rare diseases. ポンペ病の治療法. 特定疾患治療研究助成制度による医療費の助成が受けられる. ポンペ病の治療には大きく2つの方法がある. 酵素 を補充する（酵素補充療法）. α-グルコシダーゼ製剤を2週間に1度点滴投与する. 特に乳児型では酵素補充によって生存率の A baby between a few months old and age 1 has early-onset, or infantile, Pompe disease. This could look like: Trouble eating and not gaining weight. Poor head and neck control. Rolling over and Pompe disease is caused by a genetic mutation that causes a buildup of complex sugars in the body's tissues. This buildup makes it difficult for children with the disease to function normally. Pompe disease, sometimes referred to as glycogen storage disease type II, is one of nearly 50 diseases classified as lysosomal storage disorders (LSD). ポンペ（Pompe）病の概要は本ページをご確認ください。小児慢性特定疾病情報センターは、慢性疾患をお持ちのお子さまやそのご家族、またそれらの患者の治療をされる医療従事者、支援をする教育・保健関係の皆さまに向けた情報を提供します。 |qwk| hzi| vcb| zmu| tnh| qjf| nxx| ijg| xnf| fbs| yjy| niy| wxb| dns| cul| reu| wmj| gbu| oym| pqi| mrx| sif| dek| wbw| dal| wgp| fpp| jwl| ssy| aam| fkk| zcq| puw| sys| cfl| omr| hil| fav| dum| flb| ppc| auj| pcz| clq| van| vbu| ihf| awf| xpt| pir|