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5 Written questions

5 Matching questions

  1. glucose-6-phosphate-dehydrogenase
  2. essential fructosuria
  3. phenylketonuria
  4. homocystinuria
  5. classic galactosemia
  1. a treatment is to exclude galactose and lactose from diet
  2. b depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6
  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 decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  5. e defect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine

5 Multiple choice questions

  1. treatment is decreased phenylalanine and increased tyrosine in diet
  2. can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  3. absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  4. defect in transport of tryptophan; leads to pellagra
  5. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase

5 True/False questions

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


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


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


  4. pyruvate dehydrogenasedeficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects


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