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Article

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

European journal of human genetics : EJHG - 1 May 2014

Leroy Jules G, Sillence David, Wood Tim, Barnes Jarrod, Lebel Robert Roger, Friez Michael J, Stevenson Roger E, Steet Richard, Cathey Sara S

Abstract excerpt

Mucolipidosis (ML) II and ML IIIα/β are allelic autosomal recessive metabolic disorders due to mutations in GNPTAB. The gene encodes the enzyme UDP-GlcNAc-1-phosphotransferase (GNPT), which is critical to proper trafficking of lysosomal acid hydrolases. The ML phenotypic spectrum is dichotomous. Criteria set for defining ML II and ML IIIα/β are inclusive for all but the few patients with phenotypes that span the...

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Source

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Identifiers

PMID: 24045841
DOI: 10.1038/ejhg.2013.207
PMCID: PMC3992569

Genes

GNPTAB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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