CBSE

Lesch-Nyhan Syndrome: what causes it and what are manifestations? - HGPRT deficiency in purine salvage pathway (this enzyme normally converts hypoxanthine to IMP and guanine to GMP). This deficiency leads to excessive Uric acid production and de novo purine synthesis. It is X linked recessive. Symptoms: hyperuricemia, gout, aggression / self mutilation, mental retardation, dystonia. Treatment for Lesch-Nyhan? - Allopurinol / febuxostat second line. Both of these drugs inhibit xanthine oxid...

-cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. -This is due to a defect in the ________gene responsible for ____________. -immune deficiency manifests as _______ - ataxia telangiectasia ATM gene responsible for DNA break repair IgA deficiency Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary infections...Dx= - Ataxia Telangiectasia Pt presents with Thrombocytopenia, Eczema, and Recur...