RT Book, Section
A1 Deberardinis, Ralph J.
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6721389
T1 Chapter 114. Acute Metabolic Dysfunction
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=6721389
RD 2024/04/19
AB Inborn  errors  of  metabolism  are  genetic  diseases  caused  by  mutations  in  metabolic  enzymes,  nutrient  transporters,  and  related  genes.  Because  metabolism  is  the  foundation  of  basic  processes  such  as  energy  homeostasis,  fuel  storage,  and  growth,  it  is  not  surprising  that  many  inborn  errors  of  metabolism  present  with  severe,  multisystem  failure  culminating  in  shock,  cardiorespiratory  collapse,  and  coma.  Therefore,  inborn  error  of  metabolism  is  a  crucial  category  of  diseases  in  pediatric  emergency  medicine  and  critical  care.  Their  pathophysiology  involves  a  combination  of  disturbances  emanating  from  the  dysfunctional  metabolic  pathway,  including  failure  to  produce  energy  and  required  metabolites,  accumulation  of  toxic  intermediates,  and  complex  effects  on  global  metabolism  due  to  sequestration  of  cofactors.