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5 Written questions

5 Matching questions

  1. phenylketonuria
  2. pyruvate kinase, phosphoglucose isomerase
  3. maple syrup urine disease
  4. homocystinuria
  5. pyruvate dehydrogenase
  1. a deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  2. b deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  3. c causes severe CNS defects, mental retardation, death
  4. d can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  5. e decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR

5 Multiple choice questions

  1. symptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis
  2. homogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis
  3. treatment is decreased phenylalanine and increased tyrosine in diet
  4. deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  5. congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

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. cystinuriadepending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6


  3. maple syrup urine diseasedefect in transport of tryptophan; leads to pellagra


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


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