MUCOPOLYSACCHARIDOSES

Question 1

inherited deficiency of an
enzyme involved in the degradation of acid
mucopolysaccharides, now called
glycosaminoglycans (GAGs

Answer 1

MUCOPOLYSACCHARIDOSES

Question 2

All of the disease is Mucopolysaccaridoses are autosomal recessive except for?

Answer 2

Type 2 (X-linked)

Question 3

What is the gene mutation in MPS VI?

Answer 3

ARSB

Question 4

What is the gene mutation in MPS VII?

Answer 4

GUSB

Question 5

SIGNS & SYMPTOMS
- liver and spleen enlargement
(hepatosplenomegaly)
- short stature
- “coarse” facial features
- neurological abnormalities
- heart abnormalities
- thickened skin

Answer 5

Mucopolysaccharidoses

Question 6

Give one diagnosis of MPS.

Answer 6

• Clinical evaluation
• Urine tests
• Enzyme assays
• Genetic testing

Question 7

Give one treatment of MPS.

Answer 7

• Enzyme replacement therapy (ERT)
• Bone marrow transplant
• Surgery
• Respiratory support
• Physical and occupational therapy

Question 8

Who describe a specific MPS condition?

Answer 8

Charles Hunter

Question 9

What is the common name of MPS VI?

Answer 9

MARATEAUX-LAMY SYNDROME

Question 10

What is the term for liver and spleen enlargement?

Answer 10

Hepatosmegaly

Question 11

It is a type of treatment that involves the intravenous infusion of a synthetic enzyme that is missing or deficient in the individuals with MPS.

Answer 11

Enzyme replacement therapy