RT Book, Section
A1 McCarthy, Jeanette J.
A1 Mendelsohn, Bryce A.
SR Print(0)
ID 1134735011
T1 Emergency Medicine, Metabolic Disease
T2 Precision Medicine: A Guide to Genomics in Clinical Practice
YR 2016
FD 2016
PB McGraw-Hill Education
PP New York, NY
SN 9781259644139
LK accessmedicine.mhmedical.com/content.aspx?aid=1134735011
RD 2024/04/19
AB The  crucial  recognition  that  an  Inborn  Error  of  Metabolism  (IEM)  is  at  play  often  comes  from  a  nongeneticist  practitioner.  Rather  than  serve  as  a  textbook  of  the  many  biochemical  pathways  affected  in  IEMs,  this  section  is  intended  as  a  general  and  practical  overview  to  facilitate  the  initial  recognition  and  early  management  of  a  suspected  metabolic  crisis  and  provide  an  introduction  to  the  most  common  diagnostic  and  management  strategies.  The  detailed  diagnosis  of  IEMs,  interpretation  of  complex  biochemical  labs,  and  the  nuanced  management  of  these  patients  is  the  purview  of  the  specialist  and  therefore  this  section  cannot  replace  timely  consultation  with  a  specialist  should  such  a  situation  arise.  Biochemical  genetics  is  a  subfield  of  Medical  Genetics  and  physicians  who  specialize  in  this  field  are  available  around  the  world.  Because  of  the  rarity  of  IEMs,  involvement  of  this  type  of  specialist  is  often  inevitable  for  diagnosis  and  management.  Illnesses  caused  by  IEMs  that  present  more  subtly  (e.g.,  as  developmental  delay)  are  discussed  in  Chapter  5.