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5 Written questions

5 Matching questions

  1. homocystinuria
  2. aldolase B
  3. classic galactosemia
  4. cystinuria
  5. pyruvate dehydrogenase
  1. a symptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis
  2. b treatment is to exclude galactose and lactose from diet
  3. c deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  4. d treat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine
  5. e hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT

5 Multiple choice questions

  1. mild, autosomal recessive condition, may lead to infantile CATARACTS
  2. causes severe CNS defects, mental retardation, death
  3. 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
  4. deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  5. defect in transport of tryptophan; leads to pellagra

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. ornithine transcarbamoylase deficiencymild, autosomal recessive condition, may lead to infantile CATARACTS

          

  4. phenylketonuriahomogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis

          

  5. homocystinuriahereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT

          

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