Genetic Disorders and Biochemical Pathology — Flashcards

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

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

Partial deficiency of _____ causes Kelley-Seegmiller syndrome.

In OTC deficiency, patients present with _____glycemia due to decrease in glutamate levels

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

_____ syndrome is an inherited defect in alpha 2 chain of type IV collagen

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