Genetic Disorders and Biochemical Pathology — Flashcards

The enzyme _____ is deficient in Lesch-Nyhan syndrome

Pyruvate dehydrogenase deficiency presents with _____ defects and lactic acidosis

_____ syndrome is due to absent UDP-glucuronyl transferase activity

Wilson disease results in lack of copper transport into _____ and lack of incorporation into ceruloplasmin

Propionic acidemia results in _____ levels of propionyl-CoA and decreased levels of methylmalonic acid

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

Partial deficiency of _____ causes Kelley-Seegmiller syndrome.

Refsumm disease is an _____ metabolic disorder caused by defective alpha-oxidation

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