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Flashcards in Lysosomal Storage Disease Deck (1)
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1

MPS 1

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

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