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5 Written questions

4 Matching questions

  1. hyperammonemia
  2. homocystinuria
  3. maple syrup urine disease
  4. pyruvate dehydrogenase
  1. a deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  2. b causes severe CNS defects, mental retardation, death
  3. c can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  4. d treatment is to limit protein in diet; may given benzoate and phenylbutyrate to decrease ammonia levels; symptoms are tremor, slurring, somnolence, vomiting, cerebral edema, blurring

5 Multiple choice questions

  1. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  2. can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  3. deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  4. congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells
  5. defect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine

5 True/False questions

  1. phenylketonuriadecreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR


  2. homocystinuriadepending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6


  3. phenylketonuriatreatment is decreased phenylalanine and increased tyrosine in diet


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


  5. alkaptonuriahomogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis


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