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5 Written questions

5 Matching questions

  1. albinism
  2. aldolase B
  3. phenylketonuria
  4. maple syrup urine disease
  5. cystinuria
  1. a blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  2. b deficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting
  3. c congenital deficiency of tyrosinase, or tyrosine transporters, or lack of migration of neural crest cells
  4. d decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  5. e can get hexagonal kidney stones; use acetazolamide to alkalinize the urine

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. causes severe CNS defects, mental retardation, death
  3. mild, autosomal recessive condition, may lead to infantile CATARACTS
  4. absence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation
  5. symptoms include mental retardation, osteoporosis, TALL stature, kyphosis, LENS SUBLUXATION, and atherosclerosis

5 True/False questions

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


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


  3. homocystinuriadepending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6


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


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