Genetic Disorders and Biochemical Pathology — Flashcards

The enzyme _____ is deficient in Niemann Pick disease

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

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

Deficiency of the enzyme _____ causes maple syrup urine disease

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

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

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

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

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

Werdnig-Hoffmann (SMA Type 1) is caused by an _____ mutation in the SMN1 gene on chromosome 5q; the SMN protein normally facilitates the assembly of snRNPs