Biochem mini2

  1. What is tested for in the screen of FeCl2
    • phenylketonuria
    • tyrosinemia
    • maple syrup urine disease
    • alcaptonuria
    • ketonuria
  2. What is tested for in the screen of Reducing substances
    glucose, galactose, fructose, lactose, sialic acid,.
  3. What is tested for in the screen for Nitroprusside sodium
    • ketones
    • cystine
    • homocysteine
  4. What is tested for in the screen of Azure
    mucopolysaccharides
  5. Heel-prick tests for
    • PKU
    • maple syrup urine disease
    • homocystinuria
    • tyrosinemia

    • Medium chain Acetyl-CoA dehydrogenase deficiecy
    • biotinase deficiency
    • galactosemia

    • adrenal hyperplasia
    • hypothyroidism

    sickle cell disease
  6. Acetone, fruit smell
    diabetic ketoacidosis
  7. chlorine-like smell
    hawkinsinuria (tyrosine pathway)
  8. sweaty feet
    isovaleric acidemia (leucine pathway)
  9. Caramel
    maple syrup urine disease (Leucine, Isoleucine, Valine)
  10. drying hops
    • oast house syndrome
    • (mehtionine)
  11. ammonia smell
    • methylmalonic aciduria
    • (odd-chain fa, aa)

    • propionic acidemia
    • (Ile, Val, Thr, Met)

    • urea cycle defect
    • (aa)
  12. mouse urine smell
    phenylketonuria
  13. fish smell
    • trimehtylaminuria
    • (choline, carnitine)
  14. cabbage smell
    • tyrosinemia I
    • (Tyr)
Author
lazzsant
ID
113269
Card Set
Biochem mini2
Description
Semester 3 mini2 biohem
Updated