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5 Written questions

3 Matching questions

  1. homocystinuria
  2. phenylketonuria
  3. pyruvate dehydrogenase
  1. a depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6
  2. b treatment is decreased phenylalanine and increased tyrosine in diet
  3. c deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects

5 Multiple choice questions

  1. causes severe CNS defects, mental retardation, death
  2. decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  3. deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  4. poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  5. deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis

5 True/False questions

  1. essential fructosuriatreatment is decreased phenylalanine and increased tyrosine in diet


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


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


  4. glucose-6-phosphate-dehydrogenasetreat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine


  5. cystinuriacan get hexagonal kidney stones; use acetazolamide to alkalinize the urine