Genetic Disorders and Biochemical Pathology — Flashcards

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

The enzyme _____ is deficient in Niemann Pick disease

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

_____ builds up in Type I tyrosinemia and takes an alternate pathway to convert to Succinylacetone

Deficiency of the enzyme _____ causes maple syrup urine disease

_____ diseases often demonstrate variable expression in a population or within a family due to heteroplasmy

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

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

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

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