منابع مشابه
Hypothyroidism in late-onset Pompe disease
PURPOSE In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progressive muscle weakness and worsening respiratory function. Patients with late-onset forms of Pompe d...
متن کاملLate-Onset Pompe Disease: A Multisystemic Disorder.
Gastrointestinal problems including dysphagia (5/58, resulting in aspiration in 2), constipation (10/58), poor nutrition (20/58) were common and volvulus occurred in 1 patient. Fatigue and diffi culties with concentration were common. Cerebral vascular anomalies were found in 2 of 10 patients screened, with 1 patient presenting with intracranial haemorrhage. Pain was seen frequently, with both ...
متن کاملClinical guidelines for late-onset Pompe disease.
Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe dise...
متن کاملLate-onset Pompe Disease with Elevated Liver Transaminases: A Case Report
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...
متن کاملbone density in patients with late onset pompe disease
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...
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ژورنال
عنوان ژورنال: Bratislava Medical Journal
سال: 2015
ISSN: 1336-0345
DOI: 10.4149/bll_2015_097