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5 Written questions

5 Matching questions

  1. cystinuria
  2. maple syrup urine disease
  3. pyruvate kinase, phosphoglucose isomerase
  4. homocystinuria
  5. arsenic
  1. a hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT
  2. b causes severe CNS defects, mental retardation, death
  3. c can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  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 deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis

5 Multiple choice questions

  1. treatment is decreased phenylalanine and increased tyrosine in diet
  2. deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  3. mild, autosomal recessive condition, may lead to infantile CATARACTS
  4. treatment is to limit protein in diet; may given benzoate and phenylbutyrate to decrease ammonia levels; symptoms are tremor, slurring, somnolence, vomiting, cerebral edema, blurring
  5. congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

5 True/False questions

  1. essential fructosuriadecreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR


  2. aldolase Bdeficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting


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


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


  5. glucose-6-phosphate-dehydrogenasetreat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine