RT Book, Section
A1 Schwahn, Bernd Christian
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6724537
T1 Chapter 135. Hyperphenylal-Aninemias
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6724537
RD 2024/04/23
AB Hyperphenylalaninemias  are  an  important  group  of  metabolic  disorders  that  present  mainly  as  chronic  encephalopathy.  Severe  hyperphenylalaninemia  leading  to  phenylketonuria  (PKU)  has  a  very  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  mass  screening,  and  on  the  concept  of  gene-environment  interaction.  Genetic  defects  associated  with  hyperphenylalaninemia  can  now  be  regarded  as  a  strong  risk  factor  for  neurodisability,  but  their  outcome  is  more  determined  by  the  degree  of  metabolic  control  than  by  genetic  variability.