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Article

Mucolipidosis type IV: a subtle pediatric neurodegenerative disorder.

Pediatric neurology - 1 Mar 2010

Geer Joseph S, Skinner Steve A, Goldin Ehud, Holden Kenton R

Abstract excerpt

The mucolipidoses are a heterogeneous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare; it is seen predominantly in the Ashkenazi Jewish population and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacifications or clouding, and very slowly progressive neurodegeneration over many years. Elevation of serum gastrin is...

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Identifiers

PMID: 20159435
DOI: 10.1016/j.pediatrneurol.2009.10.002
PMCID: PMC2824620

Genes

MCOLN1

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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