Genetic Disorders and Biochemical Pathology — Flashcards

Deficiency of the enzyme _____ causes maple syrup urine disease

_____ syndrome is caused by an activating mutation in one copy of the GNAQ gene

_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase

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.

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

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

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

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

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