RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164070447
T1 Galactosemia
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164070447
RD 2024/09/11
AB Galactosemia  is  an  autosomal  recessive  metabolic  disorder  that  occurs  due  to  galactose-1-phosphate  uridyl  transferase  enzyme  deficiency  that  leads  to  hepatic,  ophthalmic,  neural,  and  renal  derangements.  Inborn  error  of  metabolism  with  the  inability  to  metabolize  galactose  appropriately.  This  results  in  toxic  effects  on  brain,  liver,  kidney,  and  eyes.  Early  diagnosis  and  galactose-free  diet  are  the  keys  to  the  limitation  of  the  symptoms  of  the  disease.