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Article

Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.

Molecular genetics and metabolism - 1 Feb 2014

Ahmed Alia, Whitley Chester B, Cooksley Renee, Rudser Kyle, Cagle Stephanie, Ali Nadia, Delaney Kathleen, Yund Brianna, Shapiro Elsa

Abstract excerpt

UNLABELLED: The lysosomal enzyme α-L-iduronidase hydrolyzes terminal iduronic acid from heparan sulfate and dermatan sulfate, and is an essential step in GAG degradation. Mutations of its gene, IDUA, yield a spectrum of mucopolysaccharidosis (MPS) type I clinical disorders. The IDUA mutation, c.712T>A (p.L238Q) was previously noted as a mild mutation. In a longitudinal study of MPS brain structure and function...

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Source

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Identifiers

PMID: 24368159
DOI: 10.1016/j.ymgme.2013.11.014
PMCID: PMC3939822

Genes

IDUA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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