TY  - CHAP
M1  - Book, Section
TI  - Hyperphenylalaninemias and Phenylketonuria
A1  - Schwahn, Bernd Christian
A2  - Kline, Mark W.
PY  - 2018
T2  - Rudolph's Pediatrics, 23e
AB  - Hyperphenylalaninemia  causes  chronic  toxic  encephalopathy,  depending  on  the  timing,  extent,  and  length  of  exposure  to  increased  phenylalanine  concentrations.  Severe  hyperphenylalaninemia  leading  to  phenylketonuria  (PKU)  has  a  distinct  role  in  the  field  of  inherited  metabolic  disorders:  PKU  is  the  first  genetic  disease  that  could  be  treated  exclusively  by  dietary  manipulation  and  that  could  be  entirely  prevented  by  universal  newborn  screening  and  presymptomatic  dietary  intervention.  This  has  had  a  huge  impact  on  pediatric  medicine,  on  the  evolution  of  neonatal  screening,  and  on  the  concept  of  gene-environment  interaction.  Genetic  defects  associated  with  hyperphenylalaninemia  can  be  regarded  as  a  strong  risk  factor  for  neurodisability,  but  the  clinical  outcome  is  more  determined  by  the  quality  of  metabolic  treatment  than  by  genetic  variability.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1182928226
ER  -