Genetic Disorders and Biochemical Pathology — Flashcards

Reye syndrome may occur due to decreased _____ secondary to reversible inhibition of mitochondrial enzymes in hepatocytes by aspirin metabolites

_____ is characterized by hypocalcemia, hyperphosphatemia, and high PTH.

IL-_____ and ADAM33 polymorphisms are found in patients of asthma

Raised _____ levels are used in neonatal screening for Type I tyrosinemia

Treatment of Von Gierke disease includes frequent oral _____ or cornstarch between meals

_____ is a tumor suppressor gene that encodes for the protein Hamartin

Maple syrup urine disease causes increased _____ in the blood, especially those of leucine

What substrates (2) accumulate in the lysosomes of a patient with Hurler syndrome? _____ and dermatan sulfate

The enzyme _____ is deficient in Niemann Pick disease

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