answer:What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder.

answer:How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern.

answer:What treatment is available for mucopolysaccharidosis I (MPS I)? The two main treatments for MPS I are enzyme replacement therapy (ERT) and bone marrow transplant. Both of these treatments work by replacing the missing IDUA enzyme. A drug called laronidase or Aldurazyme is the enzyme replacement therapy for MPS I. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, this treatment is not expected to treat problems with mental development because laronidase cannot cross the blood-brain barrier. A bone marrow transplant is another treatment option that provides the person with MPS I with cells that can produce the IDUA enyzme. A bone marrow transplant can stop the progression of neurological problems.

answer:Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment.