Genetic Disorders and Biochemical Pathology — Flashcards

Citrullinemia type _____ is due to citrin defect.

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

The frataxin gene is essential for _____ iron regulation

_____ 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

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

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