TY  - CHAP
M1  - Book, Section
TI  - Inherited Defects of Membrane Transport
A1  - Longo, Nicola
A2  - Jameson, J. Larry
A2  - Fauci, Anthony S.
A2  - Kasper, Dennis L.
A2  - Hauser, Stephen L.
A2  - Longo, Dan L.
A2  - Loscalzo, Joseph
PY  - 2018
T2  - Harrison's Principles of Internal Medicine, 20e
AB  - Specific  membrane  transporters  mediate  the  passage  of  a  wide  variety  of  substances  across  cellular  membranes.  Classes  of  substrates  include  amino  acids,  sugars,  cations,  anions,  vitamins,  and  water.  The  number  of  inherited  disorders  of  membrane  transport  continues  to  increase  with  the  identification  of  new  transporters  on  the  plasma  membrane  or  intracellular  organelles  and  the  clarification  of  the  molecular  basis  of  diseases  with  previously  unknown  pathophysiology.  The  first  transport  disorders  identified  affected  the  gut  or  the  kidney,  but  transport  processes  are  now  proving  essential  for  the  normal  function  of  every  organ.  Mutations  in  transporter  molecules  cause  disorders  of  the  heart,  muscle,  brain,  and  endocrine  and  sensory  organs  (Table  414-1).  Inherited  defects  impairing  the  transport  of  selected  amino  acids  that  can  present  in  adults  are  discussed  here  as  examples  of  the  abnormalities  encountered;  others  are  considered  elsewhere  in  this  text.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1155957759
ER  -