Adiagnosticjourney in mucopolysaccharidosis
Mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems. Each MPS is caused by a deficiency in the activity of a single, specific lysosomal enzyme required for glycosaminoglycan (GAG) degradation. A proportion of patients with MPS present with attenuated disease, have fewer signs and symptoms that occur later, and may remain undiagnosed for years. Patients with MPS typically show loss of joint range of motion and restricted mobility, and are frequently referred to rheumatologists. Joint disease in MPS is characterized by the absence of the local and systemic signs of inflammation. Other clinical signs include corneal clouding, umbilical or inguinal hemia, heart murmur, carpal tunnel syndrome, recurrent respiratory or ear infections. An MPS diagnosis is based on urinary GAG analyses, enzyme activity assays, and molecular testing.
Mucopolysaccharidosis, diagnosis, treatment.