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5 Written questions

5 Matching questions

  1. glucose-6-phosphate-dehydrogenase
  2. hartnup disease
  3. hyperammonemia
  4. galactokinase deficiency
  5. classic galactosemia
  1. a absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  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 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
  4. d mild, autosomal recessive condition, may lead to infantile CATARACTS
  5. e defect in transport of tryptophan; leads to pellagra

5 Multiple choice questions

  1. x-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia
  2. treat deficiency with increased intake of ketogenic nutrients--high fat content, or lysine and leucine
  3. deficiency associated with hemolytic anemia; failure of Na/K ATPase leads to RBC swelling and lysis
  4. causes severe CNS defects, mental retardation, death
  5. poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath

5 True/False questions

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

          

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

          

  3. homocystinuriacan be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency

          

  4. albinismpoisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath

          

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

          

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