Hydroxyurea is used to treat? - ANSWER-- *Sickle Cell Anemia*
- Patients with SCA have a mutation in *Adult Hemoglobin*,
causing Sickling
- Hydroxyurea inreases the production of *Fetal Hemoglobin*,
reducing Sickling
Xanthine Oxidase is inhibited by? - ANSWER-Allopurinol
Febuxostat
Allopurinol/Febuxostat are used to treat? - ANSWER-Lesch-
Nyhan Syndrome
, Lesch-Nyhan Syndrome mode of transmission? - ANSWER-X-
Linked Recessive
What's a classic finding of Lesch-Nyhan Syndrome Deficiency
seen in diapers? - ANSWER-- *Yellow-Orange Granules*
- Represent *Uric Acid Crystals*
Lesch-Nyhan Syndrome Deficiency leads to what specific blood
smear? - ANSWER-- 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*
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