TY  - CHAP
M1  - Book, Section
TI  - Disorders of Mineral Metabolism (Iron, Copper, Zinc, and Molybdenum)
A1  - Koeller, David M.
A1  - Kaler, Stephen G.
A2  - Sarafoglou, Kyriakie
A2  - Hoffmann, Georg F.
A2  - Roth, Karl S.
PY  - 2017
T2  - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
AB  - Copper,  zinc,  iron,  and  molybdenum  are  essential  metals  that  must  be  acquired  from  the  diet.  Their  roles  vary  from  electron  transfer  and  oxygen  transport  to  the  determination  and  maintenance  of  protein  structure.  There  are  hundreds  of  metalloproteins  that  function  in  many  aspects  of  cellular  metabolism.  Thus  it  is  not  surprising  that  abnormalities  of  metal  homeostasis  can  present  with  a  broad  range  of  clinical  symptoms.  Disorders  of  metal  metabolism  can  be  divided  into  three  main  categories,  characterized  by  either  an  excess  or  deficiency,  or  a  defect  in  intracellular  metal  metabolism.  Disorders  characterized  by  excess  metal  include  hereditary  hemochromatosis  and  Wilson  disease,  which  result  from  toxic  accumulation  of  iron  and  copper,  respectively.  Menkes  disease  and  acrodermatitis  enteropathica  are  examples  of  disorders  that  result  from  metal  deficiency  (ie,  copper  and  zinc,  respectively).  The  third  group  of  disorders  is  represented  by  molybdenum  cofactor  deficiency,  which  is  caused  by  defective  intracellular  synthesis  of  a  molybdenum-containing  pterin.  The  varying  pathophysiology  of  these  disorders  is  also  reflected  in  the  variable  response  to  therapy,  which  ranges  from  complete  cure  in  acrodermatitis  enteropathica  to  the  virtual  absence  of  effective  treatment  options  in  molybdenum  cofactor  deficiency.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1140322324
ER  -