We present a case of adult Pompe disease (acid maltase deficiency) with an uncommon clinical presentation characterized by severe fatigue and myalgia prior to the onset of limb girdle weakness. Remarkably, the muscle biopsy demonstrated selective involvement of type 1 muscle fibers. The cause and clinical effects of fiber type specific involvement are currently unknown, but the phenomenon might...

Pompe disease is an acid maltase deficiency being part of glycogen storage diseases that affects all age groups. In both childhood and adult forms, the classic clinical picture is that of a progressive myopathy. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality from acid maltase deficiency. Its association with rh...

Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replac...

Introduction Glycogen storage disease type II (Pompe disease) is a rare, progressive muscle disorder with a wide range of phenotypic presentations. It is caused by an inherited deficiency of acid a-glucosidase (GAA), which leads to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal, and smooth muscle. The gradual pathologic storage of GAA in muscle cells causes i...

(population 5.5 million). We conducted a screening program in the largest neuromuscular clinic, and respiratory center in Denmark, as we hypothesised that the condition may be overlooked. The inclusion criteria were age (over 15 years), unexplained hyper-CK-aemia and myopathy, unclassified Limb-girdle muscular dystrophy (LGMD) and unexplained, restrictive respiratory insufficiency. We went thro...

Clinical studies of enzyme replacement therapy for Pompe disease have indicated that relatively high doses of recombinant human acid alpha-glucosidase (rhGAA) may be required to reduce the abnormal glycogen storage in cardiac and skeletal muscles. This may be because of inefficient cation-independent mannose 6-phosphate receptor (CI-MPR)-mediated endocytosis of the enzyme by the affected target...

OBJECTIVE To describe the first case of infantile Pompe disease to be treated in Brazil. DESCRIPTION Pompe disease is a glycogen storage disease related to defects in the acid alpha-glucosidase enzyme, leading to an intracellular accumulation of glycogen, mainly in muscles. Two forms are described: infantile and juvenile. Since 2006, treatment with recombinant human acid alpha-glucosidase has...

BACKGROUND Azoxymethane (AOM) is a potent carcinogenic agent commonly used to induce colon cancer in rats; the cytotoxicity of AOM is considered to mediate oxidative stress. This study investigated the chemopreventive effect of three natural extracts [pomegranate peel extract (PomPE), papaya peel extract (PapPE) and seaweed extract (SE)] against AOM-induced oxidative stress and carcinogenesis i...

To enhance the delivery of rhGAA (recombinant GAA, where GAA stands for acid alpha-glucosidase) to the affected muscles in Pompe disease, the carbohydrate moieties on the enzyme were remodelled to exhibit a high affinity ligand for the CI-MPR (cation-independent M6P receptor, where M6P stands for mannose 6-phosphate). This was achieved by chemically conjugating on to rhGAA, a synthetic oligosac...