Mucopolysaccharidosis type I with neurological involvement

Also known as: Hurler syndrome; Scheie syndrome

Lysosomal storage disease with alpha-L-iduronidase deficiency.

Medical specialty: Neurology
Subspecialty: Neurology / Metabolic disease; Pediatric neurology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy to adolescence
Gene(s) involved: IDUA

Etiology & mechanism

IDUA mutation.

Gene(s) involved (1)

IDUA

Symptoms & signs (3)

coarse featurescognitive declinehydrocephalus

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.