Genetic Disorders and Biochemical Pathology — Flashcards

If a uniparental disomy results in a _____ offspring, there may have been a meiosis II error

Treatment for phenylketonuria includes a diet low in _____ with supplemental tyrosine +/- tetrahydrobiopterin

_____ is a defect in the enzyme propionyl-CoA carboxylase

The frataxin gene is essential for _____ iron regulation

_____ syndrome is due to mildly low UDP-glucuronyl transferase activity

In _____ syndrome, the paternal gene is imprinted and the maternal gene is mutated/deleted

Citrullinemia type _____ is due to citrin defect.

The G1 restriction point of the cell cycle is regulated by the tumor suppressors _____ and Rb

The _____ variant of G6PD deficiency results in markedly reduced half-life of G6PD

Treatment for acute intermittent porphyria include _____ and glucose, which inhibit ALA synthesis