TABLE 1.
NBS conditions screened in at least one state but not on RUSP.
Carbamoyl phosphate synthase (CPS) deficiency | Fabry disease | Hyperornithinemia with gyrate deficiency | Nonketotic hyperglycinemia |
Congenital cytomegalovirus infection | Formiminoglutamic acidemia | Hyperornithinemia-hyperammonemiahomocitrullinemia syndrome | Ornithine transcarbamylase (OTC) deficiency |
Congenital human immunodeficiency virus infection | GAMT deficiency | Krabbe Disease | Prolinemia Type I/Type II |
Congenital toxoplasmosis infection | Gaucher disease | Mucopolysaccharidosis Type II | Pyroglutamic acidemia |
Ethylmalonic encephalopathy | Glucose-6-phosphate dehydrogenase deficiency | Niemann Pick disease | Zellweger syndrome |