Therapy for the mucopolysaccharidoses.

Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses.

OBJECTIVE This study aimed to: assess the mucosal alterations of the larynx and hypopharynx typical for mucopolysaccharidoses, in a standardised manner; compare the severity in different subtypes of mucopolysaccharidoses; and monitor the effect of an enzyme replacement therapy. METHODS A classification for mucosal alterations of the larynx and hypopharynx was developed and utilised in 55 pati...

Replacement therapy in the mucopolysaccharidoses.

Quantitative estimation of lysosomal storage in mucopolysaccharidoses by electron microscopy analysis.

Mucopolysaccharidoses (MPS) are severe inherited metabolic disorders caused by storage of glycosaminoglycans (GAGs). The level of accumulated GAGs is an important parameter in assessment of the severity of the disease and the efficacy of treatment; unfortunately, biochemical methods are often unreliable and only semi-quantitative. Therefore, finding other methods for estimation of GAG levels an...

Cartilage and chondrocyte pathology in the mucopolysaccharidoses: The role of glycosaminoglycan-mediated inflammation.

The mucopolysaccharidoses are a family of genetic diseases each caused by a defect in a lysosomal enzyme responsible for degradation of glycosaminoglycan (GAG) [11]. Failure of effective metabolism results in abnormal storage of GAG fragments, cell injury and death, and inflammatory responses. Because glycosaminoglycans are fundamental in connective tissue structure and function, the MPS disord...

Use of a commercial agarose gel for analysis of urinary glycosaminoglycans in mucopolysaccharidoses

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by deficiency of enzymes that degrade glycosaminoglycans (GAGs). Urinary excretion of GAGs is a common feature of MPS, and is considered their major biomarker. We aimed to adapt the GAG electrophoresis method to a commercial agarose gel which would be able to separate urinary GAGs in a simpler way with good sensitiv...

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging. Owing to the rarity of these disorders, multinational studies are often needed to recruit enough patients to provide meaningful data and statistical power. This can make the consistent collection of re...