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GLA gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GLA gene

The GLA gene provides instructions for the enzyme alpha-galactosidase A, which is essential for breaking down specific fatty substances within the body's cells.

Normal Function

The GLA gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme functions within lysosomes—the cell's recycling centers—to process worn-out cell components. Specifically, alpha-galactosidase A breaks down globotriaosylceramide, a molecule consisting of three sugars attached to a fatty substance, as part of the normal recycling process for red blood cells and other cell types.

Health Conditions Related to Genetic Changes

Fabry disease

More than 370 mutations in the GLA gene have been identified in people with Fabry disease. These genetic changes result in an abnormal version of alpha-galactosidase A that cannot effectively break down globotriaosylceramide. The resulting accumulation of this substance damages cells lining blood vessels in the skin, as well as cells in the kidneys, heart, and nervous system.

The severity of the disease often correlates with enzyme activity levels:

  • Classic Fabry disease: Caused by mutations that eliminate enzyme activity; typically begins in childhood.
  • Late-onset forms: Caused by mutations that reduce but do not completely eliminate enzyme activity; typically milder.

Other Names for This Gene

  • AGAL_HUMAN
  • Agalsidase alfa
  • Alpha-D-galactosidase A
  • alpha-D-galactoside galactohydrolase
  • Alpha-galactosidase
  • alpha-Galactosidase A
  • ceramidetrihexosidase
  • GALA
  • galactosidase, alpha
  • Melibiase

Frequently Asked Questions

Baseline tests include plasma globotriaosylceramide (Gb3) levels, kidney function (creatinine, eGFR), liver enzymes, and cardiac markers (troponin, BNP). During treatment, Gb3 and organ function tests are typically monitored every 3–6 months to assess response and adjust dosing.
Regular aerobic exercise, heat or cold therapy, and pain‑management strategies (e.g., gabapentin, NSAIDs) can alleviate neuropathic pain. Maintaining a low‑protein, low‑salt diet and staying well hydrated support kidney health. Patients should work with a nephrologist and pain specialist to tailor these interventions.===
Classic Fabry disease typically presents in childhood with burning pain in the hands and feet, angiokeratomas, and early kidney or heart involvement. Late‑onset forms usually start in adulthood, often with milder pain, later kidney disease, and less skin involvement. Genetic testing can identify the specific mutation, which often correlates with disease severity.
ERT delivers a synthetic form of alpha‑galactosidase A intravenously, usually every two weeks, to reduce substrate buildup. Gene therapy aims to introduce a functional GLA gene into the patient’s cells, potentially providing a long‑term source of the enzyme. ERT is currently approved and widely available; gene therapy is still in clinical trials and not yet standard care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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