500
Two disorders screened for in every state because they are disastrous if not caught early (and happen to be a contraindication to breast feeding…)
What is Phenylketonuria.
•Deficient Phehydrolxalase.
•Sxs= MR, vomiting, athetosis, seizures, developmental delay over 1stfew mos
•Signs = fair hair, eyes, skin, musty smell.
•Low Phediet
Galactosemia.
•Deficient G1p-uridyl-transferase. G1p accumto damage kidney, liver, brain.
•Sxs= MR direct hyperbili& jaundice, ↓glc, cataracts, seizures.
•Predisposed to E. coli sepsis.
•No lactose porvida.