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[Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis].

Archivos argentinos de pediatria - 1 Feb 2018

García Hernández Lara, Sierra Sirvent Javier, Gort Mas Laura, Coll Roseli María J

Abstract excerpt

Galactosialidosis (OMIM #256540) is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene, which encodes the protective protein cathepsin A. The loss of function of this protein causes a secondarily deficiency of beta-galactosidase and N-acetyl-a-neuraminidase enzymes activities. We describe the clinical, biochemical and molecular analysis of a case report with a phenotype...

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Identifiers

PMID: 29333829
DOI: 10.5546/aap.2018.e88

Genes

CTSA

Variants

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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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