Genetic Disorders and Biochemical Pathology — Flashcards

Homocystinuria III due to _____ deficiency is treated with increased methionine in the diet

_____, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase

What is the mode of inheritence of congenital erythropoetic porphyria?_____

Occipital horn syndrome (Ehlers Danlos-IX; cutis laxa) occurs due to _____ gene mutation

Sphinomyelinase gene is present on chromosome _____

Which step of thyroid hormone synthesis is impaired in pendred syndrome?_____

Mutation of the genes encoding _____ causes juvenile hemochromatosis

Alagille syndrome is associated with mutations in _____ gene in 90% of patients

Which gene mutation is implicated in Imerslund-Grasbeck syndrome?_____

What is the mode of inheritence of Behr's syndrome?_____