Genetic Disorders and Biochemical Pathology — Flashcards

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

Deficiency of _____ leads to Canavan disease

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

The frataxin gene is essential for _____ iron regulation

_____ is a defect in the enzyme propionyl-CoA carboxylase

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

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

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

Citrullinemia type _____ is due to citrin defect.

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