Hurler syndrome

Also known as: Hurler–Scheie syndrome; Mucopolysaccharidosis type I

Lysosomal storage disorder with valve disease and coronary narrowing.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: IDUA

Etiology & mechanism

IDUA deficiency causes glycosaminoglycan accumulation.

Gene(s) involved (1)

IDUA

Symptoms & signs (9)

cardiomyopathycoarse faciescorneal cloudingcoronary stenosisdysostosis multiplexhearing losshepatosplenomegalymitral regurgitationvalve thickening

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