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Doctors for Mucopolysaccharidosis in Sobermutt Galli, Hubli-Dharwad
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Mucopolysaccharidosis are a group of inherited lysosomal storage disorders. Lysosomes work as primary digestive units within the cells. In patients with Mucopolysaccharidosis, lysosomes are unable to perform their function, hence it results in the accumulation certain complex carbohydrates in the arteries, skeleton, eyes, joints, ears, teeth or skin. Symptoms are:
• Distinctive coarse facial features
• Abnormal skeletal frame
• Short stature
• Heart and breathing abnormalities
Infants with Mucopolysaccharidosis show symptoms of the disease at around 2 yrs of age.
HOW IS MUCOPOLYSACCHARIDOSIS DIAGNOSED?
Diagnosis of the same is done via enzyme testing that is followed with clinical examination and urine tests.
HOW IS MUCOPOLYSACCHARIDOSIS TREATED?
The various treatment options include:
• Enzyme replacement therapy (ERT) - It can relieve most symptoms and slow the progress of the disease, although it doesn't help treat symptoms from the brain, like problems with thinking or learning.
• hematopoietic stem cell transplant (HSCT) - doctors put new cells into your child's body that might make the protein their body is missing.
DID YOU KNOW?
According to studies conducted 1 in 25,000 babies in the United States are born with mucopolysaccharidosis.