Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare X-linked recessive (inherited) lysosomal storage disease, which can cause a wide range of systemic symptoms.
The disease is named after one of its discoverers, Johannes Fabry.
A deficiency of the enzyme alpha galactosidase A (a-GAL A,
encoded by GLA) due to mutation causes a glycolipid known as
globotriaosylceramide (abbreviated as Gb3, GL-3, or ceramide
trihexoside) to accumulate within the blood vessels, other tissues, and
organs. This accumulation leads to an impairment of their proper
The DNA mutations which cause the disease are X-linked
recessive. The condition affects hemizygous males (i.e. all males), as
well as homozygous, and potentially heterozygous (carrier), females.
Whilst males typically experience severe symptoms, women can range from
being asymptomatic to having severe symptoms.
This variability is
thought to be due to X-inactivation patterns during embryonic
development of the female.
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