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Article

Novel GLA T194A variant causes Fabry disease.

BMJ case reports - 1 Mar 2021

Pestana Maria Nicole, Gomes da Silva Francisca, Durães José, Silva Gil

Abstract excerpt

Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical expression within the same family. Typically described as a disease that affects hemizygous men with no residual...

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Identifiers

PMID: 33649041
DOI: 10.1136/bcr-2020-239204
PMCID: PMC7929876

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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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