TY  - CHAP
M1  - Book, Section
TI  - Chapter 25. Wilson's Disease
A1  - Emerick, Karan McBride
A2  - Bishop, Warren P.
PY  - 2010
T2  - Pediatric Practice: Gastroenterology
AB  - Wilson’s  disease  is  a  human  copper  storage  disease.  Wilson’s  results  in  the  accumulation  of  toxic  levels  of  copper  in  mainly  the  liver  and  secondarily  in  other  organs  such  as  the  kidneys,  brain,  and  cornea.  The  disease  is  caused  by  a  mutation  in  the  ATP7B  gene,  which  codes  for  a  protein  that  facilitates  the  incorporation  of  copper  into  proteins  (such  as  ceruloplasmin)  and  also  the  transportation  of  copper  into  vesicles  that  allow  it  to  be  secreted  in  bile.1  The  critical  effect  of  a  mutation  in  ATP7B  is  diminished  copper  secretion  into  bile,  which  leads  to  excess  copper  accumulation  in  the  hepatocyte.  The  disease  related  to  this  defect  therefore  involves  toxicity  to  the  liver  with  clinical  disease  that  may  range  from  abnormal  liver  function  tests  to  fulminant  hepatic  failure  and  cirrhosis.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=55943365
ER  -