What's a classic finding of Lesch-Nyhan Syndrome Deficiency seen in diapers?
- Yellow-Orange Granules
- Represent Uric Acid Crystals
Lesch-Nyhan Syndrome Deficiency leads to what specific blood smear?
- Lack of HGPRT causes inactivation of the purine salvage pathway, which prevents Guanine and
Hypoxanthine from being recycled to GMP and IMP.
- Since Guanine and Hypoxanthine are lost as uric acid, the De Novo 'Purine' Synthesis Pathway must
Compensate
- Thus, it utilizes Folate & Vitamin B12
- The inappropriate utilization of Folate and Vitamin B12 can result in Macrocytic Anemia, with the
presence of Hyperhsegmented Neutrophils in Blood Smear
Adenosine Deaminase (ADA) Deficiency
mode of transmission and Disease caused?
Autosomal Recessive
- ADA Deficiency
→ ↑dATP
→ Lymphocyte Toxicity
- SCID
,(Severe Combined Immunodeficiency)
Probenecid Function?
- Inhibits Urine Reabsorption of Uric Acid
- Treats Gout
What medication Worsens Gout? Why?
Low-Dose Aspirin
- Inhibits Uric Acid Excretion in Urine
Function of DNA Polymerase III?
- 5′ → 3′ Synthesis
- 3' → 5' Proofreading Exonuclease Function
Function of DNA Polymerase I?
- Degrades RNA Primer
- Replaces it with DNA
- Excises RNA primer with 5′ → 3′ Proofreading Exonuclease Function
Function of DNA Topoisomerases?
Create a single- or double-stranded break in the
, helix to add or remove Supercoils
What inhibits Eukaryotic Topoisomerase I?
- Topo'tecan'
- Irino'tecan'
What inhibits Eukaryotic Topoisomerase II?
- Eto'poside'
- Teni'poside'
What inhibits Prokaryotic Topoisomerase II (DNA gyrase) & Topoisomerase IV
Fluoroquinolones
- Cipro'floxacin'
- Levo'floxacin'
- O'floxacin'
What is the Adverse Side Effects of the Prokaryotic Topoisomerase II (DNA gyrase) and Topoisomerase
IV Inhibitor?
Adverse Side Effect:
- Cartilage Damage
- Tendonitis
- Tendon Rupture
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