RT Book, Section
A1 Suchy, Frederick 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 7038656
T1 Chapter 421. Metabolic and Genetic Disorders of the Liver
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=7038656
RD 2023/12/03
AB The  liver  plays  a  central  role  in  the  biosynthesis  and  degradation  of  carbohydrates,  lipids,  and  amino  acids  (see  Chapter  418).  Thus,  the  liver  is  involved  primarily  or  secondarily  in  many  inborn  errors  of  metabolism.  In  inborn  errors  of  metabolism  such  as  hereditary  tyrosinemia,  the  absence  of  a  critical  enzyme  may  cause  an  accumulation  of  toxic  metabolites.  In  other  disorders,  progressive  liver  injury  may  occur  because  of  failure  to  produce  essential  compounds.  An  example  of  this  process  is  an  inborn  error  of  bile  acid  metabolism,  which  leads  to  progressive  cholestasis  because  of  a  lack  of  bile  acid  synthesis.  Severe  liver  injury  may  also  result  from  a  third  mechanism,  sequestration  of  an  abnormally  synthesized  product  within  the  liver,  as  observed  in  α1-antitrypsin  deficiency.  In  this  section,  the  focus  is  on  those  disorders  that  lead  to  acute  or  chronic  damage  to  the  liver.  Many  of  these  metabolic  disorders  are  discussed  further  in  Section  11.