Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease
نویسندگان
چکیده
منابع مشابه
Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease☆
BACKGROUND/AIMS Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to highlight the clinical variability of Pompe disease within siblings suffering from the disease. CA...
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...
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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...
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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 ...
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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...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2014
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2013.10.002