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5 Written questions

4 Matching questions

  1. glucose-6-phosphate-dehydrogenase
  2. maple syrup urine disease
  3. albinism
  4. homocystinuria
  1. a deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  2. b causes severe CNS defects, mental retardation, death
  3. c symptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis
  4. d congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells

5 Multiple choice questions

  1. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  2. mild, autosomal recessive condition, may lead to infantile CATARACTS
  3. poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  4. deficiency causes backup of pyruvate and alanine, resulting in lactic acidosis; leads to neuro defects
  5. can be due to cystathione deficiency, decreased affinity of cystathione synthase for pyridoxal phosphate, or homocysteine methyltransferase deficiency

5 True/False questions

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

          

  2. cystinuriasymptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis

          

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

          

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

          

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