RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164071107
T1 Glycogen Storage Disease Type IV (GSD IV)
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164071107
RD 2024/04/19
AB Inherited  metabolic  disorder  characterized  by  hepatosplenomegaly  and  failure  to  thrive  during  the  first  year  of  life,  followed  by  progressive  liver  cirrhosis  with  portal  hypertension  and  death  by  5  years  of  age.  It  is  caused  by  an  inborn  error  of  metabolism  resulting  in  a  mutation  in  the  GBE1  gene  that  causes  a  defect  in  the  glycogen  branching  enzyme  leading  to  accumulation  of  abnormal  glycogen  molecules  particularly  in  cardiac  and  muscle  cells.  The  severity  of  this  disease  varies  on  the  amount  of  enzyme  produced.