Genetic Disorders and Biochemical Pathology — Flashcards

Homocystinuria I due to decreased affinity of cystathionine synthase for B6 is treated with very increased _____ and increased cysteine in the diet

The enzyme _____ is deficient in HurLer syndrome

_____ is characterized by a deficiency of the enzyme aldolase B

The enzyme _____ is deficient in metachromatic leukodystrophy

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

The enzyme _____ is deficient in Niemann Pick disease

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

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

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

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