In spite of the progress in the treatment of lysosomal storage diseases (LSDs), in some of these disorders the available therapies show limited efficacy and a need exists to identify novel therapeutic strategies. We studied the combination of enzyme replacement and enzyme enhancement by pharmacological chaperones in Pompe disease (PD), a metabolic myopathy caused by the deficiency of the lysoso...

Rupture of endosomes and lysosomes is a major cellular stress condition leading to cell death and degeneration. Here, we identified an essential role for the ubiquitin-directed AAA-ATPase, p97, in the clearance of damaged lysosomes by autophagy. Upon damage, p97 translocates to lysosomes and there cooperates with a distinct set of cofactors including UBXD1, PLAA, and the deubiquitinating enzyme...

The protein synthesis and degradation of eukaryotic cells must be highly selective and tightly regulated to maintain cellular homeostasis. Like other tissues, muscle contains multiple pathways for protein breakdown including the lysosomal, Ca2+-dependent, and cytosolic ATP-dependent and independent proteolytic systems. These pathways are considered to play important roles not only in cellular d...

how to cite this article: zamani gh. approach to lysosomal disorders. iran j child neurol autumn 2012; 6:4(suppl. 1):3-4   pls see pdf.

BACKGROUND Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), is a metabolic myopathy with heterogeneous clinical presentations. Late-onset Pompe disease (LOPD) is a debilitating progressive muscle disorder that can occur anytime from early childhood to late adulthood. Enzyme replacement therapy (ERT) with recombinant human GAA is currently available for Pompe pat...

inflammatory myopathy is a paraneoplastic syndrome. inflammatory myopathy may be the first manifestation of underlying malignancy. it was reported in patients with colon cancer, breast cancer, ovarian cancer, lung cancer and non-hodgkin lymphoma. there are few reports regarding inflammatory myopathy in patients with gastric cancer. we want to present inflammatory myopathy as early manifestation...

Background: Statins frequently cause myopathy especially in combination with fibrates, and physical activity is considered a trigger for the muscle disorder. Elevated plasma levels of creatine kinase (CK), lactate dehydrogenase (LDH) and aldolase, are the main indicators of the severity of myopathy. Carvedilol is commonly used with lipid-lowering drugs in the management of heart failure, hypert...

An 11-year-old Caucasian female, the fi rst child born to healthy unrelated parents after a normal gestation and parturition, had adequate neuropsychomotor development. At the age of 10 years she was diagnosed with mononucleosis. Laboratory investigations demonstrated elevated AST/ALT. These investigations were repeatedly carried out, and AST/ALT remained elevated. The girl complained of body p...

Danon disease is an X-linked dominant skeletal and cardiac muscle disorder with multisystem clinical manifestations. It was first described in boys presenting with cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability.1 As histological findings of glycogen buildup in muscle tissue similar to those seen in Pompe disease were noted, the condition was originally conside...