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Article

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.

Current protocols in human genetics - 20 Jan 2015

Johnson Britt A, Dajnoki Angela, Bodamer Olaf A

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha iduronidase (IDUA). Progressive storage of dermatan and heparan sulfate throughout the body lead to a multiorgan presentation including short stature, dysostosis multiplex, corneal clouding, hearing loss, coarse facies, hepatosplenomegaly, and intellectual disability. Diagnosis of MPS I is based on IDUA enzyme analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25599668
DOI: 10.1002/0471142905.hg1717s84

Genes

IDUA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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