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5 Written Questions

5 Matching Questions

  1. maple syrup urine disease
  2. pyruvate dehydrogenase
  3. phenylketonuria
  4. albinism
  5. classic galactosemia
  1. a treatment is decreased phenylalanine and increased tyrosine in diet
  2. b congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells
  3. c blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  4. d absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  5. e treat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine

5 Multiple Choice Questions

  1. hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT
  2. defect in transport of tryptophan; leads to pellagra
  3. deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  4. can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  5. decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR

5 True/False Questions

  1. classic galactosemiatreatment is to exclude galactose and lactose from diet


  2. homocystinuriacan get hexagonal kidney stones; use acetazolamide to alkalinize the urine


  3. pyruvate kinase, phosphoglucose isomerasedeficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis


  4. maple syrup urine diseasedefect in transport of tryptophan; leads to pellagra


  5. ornithine transcarbamoylase deficiencyx-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia


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