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5 Written questions

5 Matching questions

  1. maple syrup urine disease
  2. phenylketonuria
  3. arsenic
  4. pyruvate kinase, phosphoglucose isomerase
  5. homocystinuria
  1. a treatment is decreased phenylalanine and increased tyrosine in diet
  2. b deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  3. c poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  4. d can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency
  5. e causes severe CNS defects, mental retardation, death

5 Multiple choice questions

  1. deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  2. deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  3. treat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine
  4. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  5. mild, autosomal recessive condition, may lead to infantile CATARACTS

5 True/False questions

  1. hartnup diseasecan get hexagonal kidney stones; use acetazolamide to alkalinize the urine

          

  2. hyperammonemiahomogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis

          

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

          

  4. alkaptonuriahomogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis

          

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

          

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