Lysosomal Storage Disease Flashcards
1
Q
MPS 1
A
Glycosaminoglycans
Deficiency in alpha-1 iduronidase
dermatin and heparin sulfate elevated
IDUA gene
autosomal recessive
Laronidase therapy
ocular clouding-ground glass chronic rhinitis otitis media CARDIOVASCULAR most common cause of death hydrocephalus progressive developmental delay coarse facial features flat face prominent forehead large head thick lips, large tongue skeletal deformities -more prominent as child ages
