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5 Written questions

4 Matching questions

  1. homocystinuria
  2. albinism
  3. glucose-6-phosphate-dehydrogenase
  4. cystinuria
  1. a congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells
  2. b depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6
  3. c hereditary defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine in PCT
  4. d deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.

5 Multiple choice questions

  1. absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  2. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  3. poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  4. causes severe CNS defects, mental retardation, death
  5. deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting

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

          

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

          

  4. galactokinase deficiencydefect in transport of tryptophan; leads to pellagra

          

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

          

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