NAME

Question Types


Start With


Question Limit

of 24 available terms

Advertisement Upgrade to remove ads

5 Written Questions

5 Matching Questions

  1. alkaptonuria
  2. hyperammonemia
  3. hartnup disease
  4. phenylketonuria
  5. classic galactosemia
  1. a defect in transport of tryptophan; leads to pellagra
  2. b treatment is to exclude galactose and lactose from diet
  3. c decreased phenylalanine hydroxylase or decreased tetrahydrobiopterin cofactor; tyrosine becomes essential; mental retardation, slow growth,fair skin, eczema, MUSTY BODY ODOR
  4. d 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
  5. e homogentistic acid oxidase deficiency; normally would degrade tyrosine. Benign, with dark connective tissue, pigmented sclera, urine turns black on standing, arthritis

5 Multiple Choice Questions

  1. blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-keto acid dehydrogenase
  2. deficiency causes decreased levels of NADPH, which is necessary to keep glutathione reduced, which detoxifies free radicals/peroxides. Leads to hemolytic anemia.
  3. poisoning by this inhibits lipoic acid and thereby the alpha ketogluterate and pyruvate dehydrogenase enzymes; vomiting, rice water stools, garlic breath
  4. x-linked recessive. can't eliminate ammonia; excess carbamoyl phosphate is converted to orotic acid; symptoms of hyperammonemia
  5. depending on form, treatment involves increasing Cys, B12, and folate, and decreasing Met, OR increased vitamin B6

5 True/False Questions

  1. aldolase Bdeficiency causes fructose intolerance because fructose-1-P accumulates, decreasing available P and thus inhibiting glycogenolysis and gluconeogenesis; causes hypoglycema, jaundice, cirrhosis, vomiting

          

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

          

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

          

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

          

  5. classic galactosemiaabsence of galactose-1-phosphate uridyltransferase; failure to thrive, jaundice, hepatomegaly, CATARACTS, mental retardation

          

Create Set