RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164070500
T1 Gangliosidosis (GM1) Type I
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=1164070500
RD 2024/09/10
AB Gangliosidosis  is  a  subcategory  of  sphingolipidosis  defined  by  the  storage  of  two  different  types  of  lipid  leading  to  the  accumulation  of  lipids  known  as  gangliosides.  Lysosomal  storage  disease.  There  are  two  distinct  genetic  causes  (Types  I  and  II)  of  the  disease.  Both  are  autosomal  recessive  and  affect  males  and  females  equally.  Affected  patients  have  clinical  features  resembling  those  of  mucopolysaccharidoses  Type  I  (Hurler  Syndrome,  Scheie  Syndrome,  and  Hurler-Scheie  Syndrome)  and  VI  (Maroteaux-Lamy  Syndrome),  however  without  mucopolysacchariduria.  Clinical  features  include  joint  stiffness,  scoliosis,  and  skeletal  dystrophy.  Valvular  heart  diseases  are  present,  of  which  aortic  insufficiency  is  the  most  common.  Obstructive  sleep  apnea  is  frequent,  and  50%  of  reported  cases  have  mild  mental  retardation.