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5 Written Questions

3 Matching Questions

  1. cystinuria
  2. classic galactosemia
  3. homocystinuria
  1. a can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  2. b symptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis
  3. c absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation

5 Multiple Choice Questions

  1. deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  2. decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  3. depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6
  4. deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  5. defect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine

5 True/False Questions

  1. hyperammonemiatreatment is to limit protein in diet; may given benzoate and phenylbutyrate to decrease ammonia levels; symptoms are tremor, slurring, somnolence, vomiting, cerebral edema, blurring


  2. pyruvate dehydrogenasetreat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine


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


  4. classic galactosemiadefect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine


  5. hartnup diseasedefect in transport of tryptophan; leads to pellagra


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