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

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

The enzyme _____ is deficient in Niemann Pick disease

Enzyme Replacement Therapy for _____ disease requires replacement of Glucocerebrosidase

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

_____ 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

Deficiency of the enzyme _____ causes maple syrup urine disease

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

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