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5 Written questions

5 Matching questions

  1. alkaptonuria
  2. arsenic
  3. classic galactosemia
  4. cystinuria
  5. pyruvate kinase, phosphoglucose isomerase
  1. a homogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis
  2. b deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  3. c absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  4. d poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  5. e hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT

5 Multiple choice questions

  1. defect in transport of tryptophan; leads to pellagra
  2. can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  3. decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  4. x-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia
  5. can get hexagonal kidney stones; use acetazolamide to alkalinize the urine

5 True/False questions

  1. hyperammonemiatreatment is to limit protein in diet; may given benzoate and phenylbutyrate to decrease ammonia levels; symptoms are tremor, slurring, somnolence, vomiting, cerebral edema, blurring


  2. essential fructosuriadefect in fructokinase; benign and asymptomatic, but fructose appears in blood/urine


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


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


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


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