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5 Cards in this Set

  • Front
  • Back
Phenylketonuria

- Phe Hydroxylase deficiency


- Musty odor


-mental retardation
- Hypopigmentation


- Phenylalanine elevated




- Tx with diet

Homocystinuria

- cystathionine beta synthase deficiency


- Homocysteine accumulates in serum and increase excretion as well


- Flush cheeks


- Tall thin build


- mental retardation


- eye problems


- Vascular thrombosis


- Tx with Vitamin B6 and reduce methionine intake

Cystinuria


- Nausea


- dull ache


- chronic pain


- Hematuria


- stones in body




Maple Syrup Urine disease


- Autosomal recessive


- sweet odor in urine (sotolon)



Tyrosinemia


- Liver and kidney disturbances


- Mental retardation


- untreated can be fatal