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5 Written questions

4 Matching questions

  1. homocystinuria
  2. hyperammonemia
  3. pyruvate kinase, phosphoglucose isomerase
  4. galactokinase deficiency
  1. a depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6
  2. b mild, autosomal recessive condition, may lead to infantile CATARACTS
  3. c deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  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. defect in transport of tryptophan; leads to pellagra
  2. deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  3. deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  4. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  5. x-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia

5 True/False questions

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


  2. essential fructosuriadefect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine


  3. albinismpoisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath


  4. homocystinuriasymptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis


  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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