Allelic heterogeneity - Study guides, Class notes & Summaries

CBSE Biochem Lesch-Nyhan Syndrome: what causes it and what are manifestations? - correct answersHGPRT 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? - correct answersAllopurinol / febuxostat second ...

WEEK 1 Walden 6501 advanced pathophysiology (genetics, cellular biology and tissue) Answered Correctly!! acrocentric refers to the terminal location of centromere on chromosomes 13, 14, 15, 21, and 22 allelic heterogeneity the situation in which multiple alleles at a single locus can produce one or more disease phenotypes. amorphic refers ro mutations that cause a complete loss of function for the respective gene, and therefore yield the same phenotype as a complete gene deletion. aneup...

Pt has a deficiency in hydroxymethylbilane (HMB) synthase(First step in heme synthesis after porphobilinogen)? - ANSWER Acute intermittent Porphyria What is the clinical manifestations of Acute intermittent Porphyria? - ANSWER Intermittent episodes of abdominal pain w/ neurological manifestations after exposure to a medication increasing heme synthesis URO III synthase deficiency?(2nd step in porphyrin synthesis)? - ANSWER Congential erythropoietic porphyria Congenital erythropoetic por...