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5 Written questions

5 Matching questions

  1. phenylketonuria
  2. pyruvate dehydrogenase
  3. cystinuria
  4. homocystinuria
  5. maple syrup urine disease
  1. a can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  2. b blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  3. c deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  4. d treatment is decreased phenylalanine and increased tyrosine in diet
  5. e depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6

5 Multiple choice questions

  1. defect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine
  2. causes severe CNS defects, mental retardation, death
  3. deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  4. deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  5. homogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis

5 True/False questions

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

          

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

          

  3. ornithine transcarbamoylase deficiencymild, autosomal recessive condition, may lead to infantile CATARACTS

          

  4. arseniccongenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

          

  5. albinismcongenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

          

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