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5 Written questions

5 Matching questions

  1. galactokinase deficiency
  2. arsenic
  3. classic galactosemia
  4. essential fructosuria
  5. maple syrup urine disease
  1. a mild, autosomal recessive condition, may lead to infantile CATARACTS
  2. b defect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine
  3. c treatment is to exclude galactose and lactose from diet
  4. d causes severe CNS defects, mental retardation, death
  5. e poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath

5 Multiple choice questions

  1. can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  2. treatment is decreased phenylalanine and increased tyrosine in diet
  3. treat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine
  4. x-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia
  5. 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 True/False questions

  1. pyruvate dehydrogenasedeficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects


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


  3. maple syrup urine diseaseblocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase


  4. cystinuriahereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT


  5. glucose-6-phosphate-dehydrogenasedeficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.


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