RT Book, Section
A1 Thomas, Janet A.
A1 Van Hove, Johan L. K.
A1 Larson, Austin A.
A1 Baker II, Peter R.
A2 Bunik, Maya
A2 Levin, Myron J.
A2 Abzug, Mark J.
A2 Schreiner, Teri L.
SR Print(0)
ID 1211985824
T1 Inborn Errors of Metabolism
T2 Current Diagnosis &amp; Treatment: Pediatrics, 27<sup>th</sup> Edition
YR 2025
FD 2025
PB McGraw Hill
PP New York, NY
SN 9781265739898
LK accessmedicine.mhmedical.com/content.aspx?aid=1211985824
RD 2025/04/27
AB Disorders  in  which  single-gene  defects  cause  clinically  significant  blocks  in  metabolic  pathways  are  called  inborn  errors  of  metabolism  (IEM).  Once  considered  rare,  the  number  of  recognized  IEM  has  increased  dramatically,  now  recognized  to  affect  1:1500  children.  Many  of  these  disorders  can  be  treated  effectively.  Even  when  treatment  is  not  available,  correct  diagnosis  permits  parents  to  make  informed  decisions  about  future  offspring.