RT Book, Section
A1 Saudubray, Jean-Marie
A2 Rudolph, Colin D.
A2 Rudolph, Abraham M.
A2 Lister, George E.
A2 First, Lewis R.
A2 Gershon, Anne A.
SR Print(0)
ID 6728217
T1 Chapter 169. Disorders of Metal Metabolism
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=6728217
RD 2024/04/18
AB Metals  are  indispensable  elements  of  cell  biology.  They  function  as  cofactors  in  many  specific  proteins  and  are  involved  in  all  major  metabolic  pathways.  Their  metabolism  and  implications  in  inborn  errors  of  metabolism  are  still  not  well  known,  but  the  number  of  inherited  metabolic  disorders  involving  the  absorption,  transport,  or  metabolism  of  metals  is  rapidly  growing.  Clinical  presentations  are  very  diverse  and  can  involve  all  organs  and  systems,  including  the  liver  and  the  central  nervous  system  (Table  169-1).  Deficiency  in  metals  results  in  metabolic  abnormalities  due  mostly  to  loss  of  function  of  metal-dependent  proteins.  On  the  other  hand,  excess  of  metals  can  result  in  the  unregulated  oxidation  of  proteins,  lipids,  and  other  cellular  components,  causing  subsequent  tissue  injury.  Some  inherited  metal  disorders  are  treatable  by  chelating  drugs  or  by  daily  supplementation  of  the  missing  metal  at  pharmacological  doses.