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Article

Recurrent fever of unknown origin: An overlooked symptom of Fabry disease.

Molecular genetics & genomic medicine - 1 Oct 2020

Luo Yi, Wu Di, Shen Min

Abstract excerpt

OBJECTIVE: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a-galactosidase A (α-Gal A), which leads to the accumulation of its substrates in various organs and tissues. Classic clinical manifestations include angiokeratomas, proteinuria, renal failure, neuropathic pain, and left ventricular hypertrophy. Fever is one of the rare...

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Identifiers

PMID: 32797665
DOI: 10.1002/mgg3.1454
PMCID: PMC7549601

Genes

GLA

Variants

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