TY - CHAP M1 - Book, Section TI - Phenylketonuria A1 - Hay, Jr, William W. A1 - Levin, Myron J. A1 - Deterding, Robin R. A1 - Abzug, Mark J. Y1 - 2017 N1 - T2 - Quick Medical Diagnosis & Treatment Pediatrics AB - Mental retardation, hyperactivity, seizures, light complexion, and eczema characterize untreated patientsNewborn screening for elevated plasma phenylalanine identifies most infantsDisorders of cofactor metabolism also produce elevated plasma phenylalanine levelEarly diagnosis and treatment with phenylalanine-restricted diet prevents mental retardationan autosomal recessive trait, with an incidence in whites of approximately 1:10,000 live births SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/04/19 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145457831 ER -