Mucopolysaccharidoses - clinical manifestations, diagnostics and therapy

Abstract

Mucopolysaccharidosis (MPS) are inherited metabolic diseases from the group of lysosomal diseases střádavých. MPS are generally characterized as a chronic progressive disease with different severity of the clinical symptoms.

The reason is a failure of enzymes that catalyze the degradation of glycosaminoglycans (GAG), which leads to their accumulation in lysosomes.

Keywords

• Mucopolysaccharidoses
• glycosaminoglycans
• inherited metabolic disorders, craniofacial dysmorphy