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5 Written questions

5 Matching questions

  1. classic galactosemia
  2. pyruvate dehydrogenase
  3. albinism
  4. essential fructosuria
  5. cystinuria
  1. a treatment is to exclude galactose and lactose from diet
  2. b congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells
  3. c deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  4. d defect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine
  5. e can get hexagonal kidney stones; use acetazolamide to alkalinize the urine

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. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  4. decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  5. mild, autosomal recessive condition, may lead to infantile CATARACTS

5 True/False questions

  1. glucose-6-phosphate-dehydrogenasedeficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.


  2. phenylketonuriatreatment is decreased phenylalanine and increased tyrosine in diet


  3. pyruvate kinase, phosphoglucose isomerasedeficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis


  4. pyruvate dehydrogenasedefect in transport of tryptophan; leads to pellagra


  5. homocystinuriacan be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency


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