RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145457831
T1 Phenylketonuria
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145457831
RD 2024/04/19
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