RT Book, Section
A1 Watkins, David
A1 Morel, Chantal F.
A1 Rosenblatt, David S.
A2 Sarafoglou, Kyriakie
A2 Hoffmann, Georg F.
A2 Roth, Karl S.
SR Print(0)
ID 1140317038
T1 Inborn Errors of Folate and Cobalamin Transport and Metabolism
T2 Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071773140
LK accesspediatrics.mhmedical.com/content.aspx?aid=1140317038
RD 2024/04/24
AB The  inborn  errors  of  folate  and  cobalamin  (Cbl)  transport  and  metabolism,  resulting  from  defects  in  a  transport  system  or  from  enzymatic  deficiency,  lead  to  decreased  availability  of  vitamin  coenzymes  required  for  cellular  metabolism.  Inherited  disorders  of  folate  metabolism  include  those  characterized  by  abnormal  absorption  and  transport  and  those  caused  by  enzyme  deficiencies,  either  primary  or  secondary,  due  to  Cbl  coenzyme  defects  (Figure  19-1).  Inherited  disorders  of  Cbl  metabolism  are  also  classified  as  those  involving  absorption  and  transport  (Figure  19-2)  and  those  involving  intracellular  utilization  (Figure  19-3).