Type 1 Mucopolysaccharidosis
What is Type 1 Mucopolysaccharidosis?
Type 1 Mucopolysaccharidosis (MPS 1) is a rare inherited disorder. This disorder is caused by the lack of an enzyme, alpha-L-iduronidase which is necessary in the breakdown of mucopolysaccharides. Symptoms of Type 1 Mucopolysaccharidosis include dwarfism, enlargement of the liver and spleen, joint stiffness and cognitive delays.
Signs and Symptoms of Type 1 Mucopolysaccharidosis
Symptoms of Type 1 Mucopolysaccharidosis can vary from person to person. Common symptoms include:
- Physical Stature: Patients typically experience short stature in comparison to their age group.
- Dysmorphic Features: Patients may experience facial dysmorphism including a large head, thickened lips, flat nasal bridge, and long wide chin.
- Hepatosplenomegaly: Patients may present with enlarged liver and spleen.
- Cognitive Impairment: speech and cognitive delays in language and motor skills are observed.
- Respiratory Complications: Patients may have a decrease in pulmonary function due to thoracic cage abnormalities.
- Joint Stiffness: Patients may experience joint stiffness with limited joint mobility.
Diagnosis of Type 1 Mucopolysaccharidosis
Diagnosis of Type 1 Mucopolysaccharidosis typically begins with a physical examination and family history. Additional testing includes a measurement of the alpha-L-iduronidase enzyme activity in the patient's white blood cells, a urine test to measure the presence of glycosaminoglycans, genetic testing, and an imaging scan.
Treatment of Type 1 Mucopolysaccharidosis
Treatment of Type 1 Mucopolysaccharidosis is typically focused on symptom management and may include orthopedic surgeries, physical therapy, and occupational therapy. Treatment may also include enzyme replacement therapy, which replaces the missing enzyme. The focus of treatment is on improving quality of life and slowing the progression of the disease.