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5 Written questions

4 Matching questions

  1. classic galactosemia
  2. cystinuria
  3. glucose-6-phosphate-dehydrogenase
  4. phenylketonuria
  1. a can get hexagonal kidney stones; use acetazolamide to alkalinize the urine
  2. b deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  3. c absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  4. d 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. deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  2. treatment is decreased phenylalanine and increased tyrosine in diet
  3. homogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis
  4. deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  5. can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency

5 True/False questions

  1. aldolase Bcongenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

          

  2. albinismcongenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

          

  3. ornithine transcarbamoylase deficiencyx-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia

          

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

          

  5. homocystinuriacan get hexagonal kidney stones; use acetazolamide to alkalinize the urine