32 Nucleotide Metabolism

Question 1

Gout, and its defect, and consequences

Answer 1

Gout is due to a defect in purine synthesis AND purine salvage. Due to oversynthesis of purines, lack of salvage, cell death-cancer treatment. Leads to uric acid build up in tissues, joints and blood

Question 2

SCID, its defect and consequences

Answer 2

SCID is due to a defect in purine salvage. Defect in the enzyme adenosine deaminase enzyme. Affects T and B cells

Question 3

Immunodeficiency disease, its defect and consequences

Answer 3

ID is due to a defect in purine salvage . Defect in the enzyme purine nucleoside phosphorylase. Affects only T cells not B cells

Question 4

Lesch-Nyhan Syndrome, its defect and consequences

Answer 4

Defect in purine salvage. Defect in the enzyme HGPRT. Purines and Uric Acid accumulate . Leads to mental retardation

Question 5

Hereditary Orotic Aciduria, its defect and consequences

Answer 5

Defect in pyrimidine synthesis. Defect in UMP synthase. Collection of orotic acid. Leads to growth retardation

Question 6

what is the important precursor of nucleotide synthesis and its origins

Answer 6

Ribose-5-phospate is a key precursor that is obtained from glucose metabolism or nucleoside degradation. It forms PRPP.

Question 7

what’s the key activated sugar that is used as a precursor of purine and pyrimidine synthesis?

Answer 7

PRPP and its used in diff ways in purine and pyrimidine synthesis

Question 8

physiological functions of nucelotides

Answer 8

precursors of nucleic acids, ATP is involved in energy transfer, and nucleotides are important in metabolism like the TCA cycle and fatty acid synthesis

Question 9

Which enzyme is responsible for converting hypoxanthine and guanine to IMP and GMP respectively?

Answer 9

HGPRT which is involved in purine salvage. A defect of HGPRT enzyme causes Lesch-Nyhan syndrome.

Question 10

What is a central base in pyrimidine synthesis?

Answer 10

UMP is a central base in pyrimidine synthesis , and CTP and UTP are produced from UMP