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5 Written questions

4 Matching questions

  1. homocystinuria
  2. cystinuria
  3. aldolase B
  4. glucose-6-phosphate-dehydrogenase
  1. a symptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis
  2. b deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  3. c deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  4. d hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT

5 Multiple choice questions

  1. decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  2. causes severe CNS defects, mental retardation, death
  3. can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  4. absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  5. treatment is to exclude galactose and lactose from diet

5 True/False questions

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

          

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

          

  3. galactokinase deficiencydeficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting

          

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

          

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