Also known as

GALA, alpha-galactosidase A, alpha-Gal A, ceramide trihexosidase

Overview

GLA (Galactosidase Alpha) encodes alpha-galactosidase A, a lysosomal enzyme that breaks down globotriaosylceramide (Gb3) and related glycosphingolipids. This enzyme is essential for normal lysosomal function and prevents accumulation of lipid substrates that can damage tissues throughout the body.

Mutations in GLA cause Fabry disease, an X-linked lysosomal storage disorder. In classic Fabry disease, males experience severe symptoms including painful acroparesthesias, angiokeratomas, corneal opacities, and progressive kidney, heart, and cerebrovascular disease. Female carriers can have variable symptoms due to X-inactivation. Later-onset cardiac and renal variants also occur. Enzyme replacement therapy and chaperone therapy are available treatments.

Understanding your GLA genetic status is important for diagnosing unexplained kidney disease, cardiomyopathy, or stroke, particularly in males. Early identification enables treatment that can slow disease progression and improve quality of life.

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