Genetic Disorders and Biochemical Pathology — Flashcards

Citrullinemia type _____ is due to citrin defect.

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

_____ disease is caused by impaired copper absorption and transport due to a defect in the ATP7A gene

Deficiency of _____ leads to Canavan disease

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

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

_____ is due to mutations in the ATP7B gene on chromosome 13

The frataxin gene is essential for _____ iron regulation

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