Problems with early discharge. Other states have added congenital toxoplasmosis, congenital adrenal hyperplasia, cystic fibrosis. Incidence in blacks approx. No false positives seen. Early diagnosis may not effect outcome of this disease.
Affected infants have high levels.
Progresses to severe ketoacidosis and death. If survives the neonatal period, mental retardation and neurologic impairment develop. Milder form also exists. If untreated, patients present in early months to years with alopecia, skin rashes, fungal skin infections, seizures, developmental delay, hypotonia, ataxia, hearing deficit, and visual abnormalities. Organic aciduria and ketoacidosis can occur later.