The aim of this study was to: (a) analyze the results of a large-scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis of infantile-onset Pompe disease (IOPD) to promote earlier treatment and better outcomes. In this study, 402,281 newborns were screened for Pompe disease from January 1, 2008 to May 1, 2012. In...

BACKGROUND Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or myocardial injury. METHODS AND RESULTS In 122 patients with Pompe disease, the relationship between cTnT, cardiac troponin I, creatine kinase (CK), CK-myocardial band levels, and skeletal muscle damage was assessed. ECG an...

BACKGROUND Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is an autosomal-recessive lysosomal storage disorder due to a deficiency of acid alpha-glucosidase (GAA, acid maltase, EC 3.2.1.20, Swiss-Prot P10253). Clinical manifestations are dominated by progressive weakness of skeletal muscle throughout the clinic...

background pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. the infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. bone min...

Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...

Đo chiều dài/cao ở trẻ mắc bệnh Pompe gặp nhiều khó khăn do không thể tự đứng vững hoặc có các bất thường cơ xương khớp như vẹo, quá ưỡn cột sống và co cứng. Mục tiêu: Xác định mối liên hệ giữa (CC) dài chày (XC) Pompe. Phương pháp: 34 đang điều trị tại Bệnh viện Nhi Trung ương được khám vận động đo chỉ số nhân trắc để xây dựng phương trình tương quan chày. Sau 3 tháng, đối tượng nghiên cứu đán...

Purpose: To examine the responsiveness of the PDMS-2 in children diagnosed with Pompe disease who had different levels of functional mobility. To examine the concurrent validity between the PDMS-2 and the Alberta Infant Motor Scale (AIMS), the Pediatric Evaluation of Disability Inventory (PEDI) and the Pompe PEDI (PPEDI) in children diagnosed with Pompe disease. Methods: A secondary analysis wa...

Both authors are members of the Pompe Disease Newborn Screening Working Group and have experience in newborn screening and in treating and caring for patients with Pompe disease; and both authors provided input and reviewed and approved the content for all articles of the supplement. DOI: https:// doi. org/ 10. 1542/ peds. 20160280B Accepted for publication Mar 8, 2017 Address correspondence to...

BACKGROUND Diaphragm weakness is the main reason for respiratory dysfunction in patients with Pompe disease, a progressive metabolic myopathy affecting respiratory and limb-girdle muscles. Since respiratory failure is the major cause of death among adult patients, early identification of respiratory muscle involvement is necessary to initiate treatment in time and possibly prevent irreversible ...

Pompe disease is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase enzyme (GAA) deficiency and divided into two distinct variants, infantile- and late-onset. The late-onset variant is characterized by a spectrum of phenotypic variation that may range from asymptomatic, to reduced muscle strength and/or diaphragmatic paralysis. Since muscle strength loss is character...