RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164071165
T1 Glycogen Storage Disease Type VI (GSD VI)
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=1164071165
RD 2024/04/16
AB Glycogen  storage  disease  Type  VI  (GSD  VI)  is  a  type  of  glycogen  storage  disease  caused  by  a  deficiency  in  liver  glycogen  phosphorylase  or  other  components  of  the  associated  phosphorylase  cascade  system.  Autosomal  recessive  inborn  error  of  metabolism  of  glycogen  associated  with  mild  hypoglycemia,  hyperlipidemia,  and  hyperketosis  may  occur.  Lactic  acid  and  uric  acid  levels  may  be  normal.  However,  lactic  acidosis  may  occur  during  fasting.  Patients  generally  have  a  benign  course,  and  typically  present  with  hepatomegaly  and  growth  retardation  early  in  childhood.