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5 Written Questions

5 Matching Questions

  1. hartnup disease
  2. arsenic
  3. ornithine transcarbamoylase deficiency
  4. phenylketonuria
  5. pyruvate dehydrogenase
  1. a treatment is decreased phenylalanine and increased tyrosine in diet
  2. b deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  3. c defect in transport of tryptophan; leads to pellagra
  4. d poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  5. e x-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia

5 Multiple Choice Questions

  1. deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  2. causes severe CNS defects, mental retardation, death
  3. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  4. can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  5. absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation

5 True/False Questions

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

          

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

          

  3. glucose-6-phosphate-dehydrogenasedeficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects

          

  4. 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

          

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

          

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