The Molecular, Biochemical, and Cellular Basis of Genetic Disease Part I

Question 1

How are most lysosomal storage diseases inherited?

Answer 1

autosomal recessive

Question 2

membrane-bound organelles containing an array of hydrolytic enzymes that catalyze the breakdown of a variety of complex macromolecules

Answer 2

lysosomes

Question 3

How are some lysosomal storage diseases treated?

Answer 3

enzyme replacement therapy

Question 4

heterogeneous group of more than a dozen storage diseases

Answer 4

mucopolysaccharidoses

Question 5

Where does degradation of mucopolysaccharisoses marcomolecules occurs where?

Answer 5

in the lysosome and requires the stepwise removal of the monosaccharide unit at the end of the chain by a series of enzymes specific to the monosaccharide and the bond involved

Question 6

Where do non-degraded GAGs appear?

Answer 6

in the urine

Question 7

hereditary disorders that are clinically progressive and are characterized by accumulation of GAGs in various tissues, particularly skeletal and extracellular matrix deformities

Answer 7

mucopolysaccharide disorders

Question 8

What is the treatment for mucopolysaccharide disorders?

Answer 8

bone marrow transplantion

Question 9

how are enzymopathies inherited?

Answer 9

recessively

Question 10

What is enzymopathiy?

Answer 10

human enzyme defect

Question 11

diseases due to different enzymes that function in the same area of metabolism

Answer 11

phenotypic homology