42 Questions
What are the three major components of nucleic acids?
Base, pentose, and phosphate
What is the characteristic of pyrimidine bases?
One six-member ring with nitrogen at positions N1 and N3
What is the difference between uracil and thymine?
Uracil is found in RNA, while thymine is found in DNA
What is the structure of purine bases?
Two fused rings with nitrogen at positions 1, 3, 7, and 9
What is the function of the amino group in adenine?
It is located at C6
What is the mnemonic used to remember the pyrimidine bases?
CUT the PIE
What is the characteristic of guanine?
It has an amino group at C2 and oxygen group at C6
What is the difference between cytosine and uracil?
Cytosine has an amino group at C4, while uracil has an oxygen group at C4
What is the function of kinase in the salvage pathway of pyrimidine nucleoside to a nucleotide?
To convert nucleoside to nucleotide
What is elevated in rapidly dividing cells like tumor cells?
Deoxythymidine kinase
What is the product of the reaction catalyzed by deoxythymidine kinase?
dTMP + ADP
What is the enzyme involved in the salvage pathway of pyrimidine base to a nucleotide?
Phosphoribosyltransferase
What are the three components of a nucleotide?
Base, sugar, phosphate
What is the final degradation product of Cytosine and Uracil?
β-alanine
What is the final degradation product of Thymine?
β-aminoisobutyric acid
What happens when there is an increase in the degradation of pyrimidines?
It does not lead to a disease state
What is the sugar found in a ribonucleoside?
Ribose
What is the base that replaces Thymine in ribonucleosides?
Uracil
What is the type of bond between the base and sugar in a ribonucleoside?
Glycosidic bond
What is the suffix used to name purine nucleosides?
-osine
What is the bond between the sugar and phosphate group in a nucleotide?
Ester bond
What is the term for the rotation of the base and sugar in a nucleotide?
Syn and anti conformations
What is the abbreviated form of Adenosine monophosphate?
AMP
What is the term for the combination of a base, sugar, and phosphate group?
Nucleotide
What is the most likely diagnosis of the child in the case described?
Severe Combined Immune Deficiency (SCID)
What is the likely deficient enzyme in the case of SCID?
Adenosine deaminase
What is the mechanism of action of the drug used in the long-term management of SCID?
Inhibits xanthine oxidase
What is the symptoms of Von Gierke's Disease associated with?
Gout
What is the biochemical basis of gout in Von Gierke's Disease?
Overproduction of glucose-6-phosphate
What is the likely cause of the patient's symptoms in Case 7?
Gout
What is the likely underlying cause of the patient's gout in Case 7?
Overproduction of uric acid
What is the significance of the absent thymic shadow on the chest X-ray?
Indicates an absent thymus
What is the primary cause of elevated uric acid levels in the patient's blood and urine?
Deficiency in HGPRT
What is the purpose of prescribing allopurinol to the patient?
To inhibit xanthine oxidase
What is the characteristic of Lesch-Nyhan Syndrome?
Elevated uric acid levels in blood and urine
What is the cause of the orange sand in the patient's diaper?
Uric acid crystals
What is the effect of HGPRT deficiency on hypoxanthine and guanine levels?
Increased levels
What is the mechanism of action of allopurinol in addition to inhibiting xanthine oxidase?
Inhibiting purine nucleoside phosphorylase
What is the characteristic of von Gierke's Disease?
Hypoglycemia with elevated lactate, uric acid, and triglyceride levels
What is the reason for the patient's irritability and respiratory distress in von Gierke's Disease?
Hypoglycemia
What is the relationship between HGPRT deficiency and uric acid production?
HGPRT deficiency increases uric acid production
What is the consequence of elevated uric acid levels in the patient's blood and urine?
Formation of uric acid crystals
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