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Fabry disease is an inherited condition in which a fat called globotriaosylceramide builds up in the body's cells because the enzyme that breaks it down, made from the GLA gene, is missing or weak. It can cause pain in the hands and feet and, later, kidney, heart and stroke problems.
Fabry disease is an inherited condition in which a fat called globotriaosylceramide builds up in the body's cells. The enzyme that breaks it down, alpha-galactosidase A, is made from the instructions in the GLA gene. A typo in GLA leaves the enzyme missing or weak, the fat is not cleared, and over the years it damages the cells it collects in.
The build-up begins in childhood. Early signs include pain in the hands and feet, small dark red spots on the skin, sweating less than usual, a cloudy front surface of the eye, stomach and bowel problems, ringing in the ears and hearing loss. Later it can bring kidney failure, heart failure and stroke, which are the dangerous complications.
In the classic form, the typo leaves no working enzyme at all, and the signs above begin early. In the later-onset form, the enzyme still works a little; it usually affects only the heart, the kidneys or the blood vessels of the brain, and appears in adulthood. The later-onset form is probably more common than the classic one.
An estimated 1 in 1,000 to 9,000 people have Fabry disease.
Migalastat (Galafold) is a capsule that helps only when the person's GLA typo is one of a particular kind, which its US label calls "amenable". The details are in the medicine note below.
Fabry disease is diagnosed by a doctor, with a blood test of the enzyme and a test of the GLA gene. A consumer DNA file does not diagnose it. The GLA positions that ClinVar lists as disease-causing are being added to this site and appear on this page as they arrive; they describe the gene, not any one person.
GLA sits on the X chromosome. A man has one X, so one typo is enough to cause the condition. A woman has two, and one typo usually causes milder signs, but unlike many conditions passed down this way, many women with one typo still have serious problems: a higher chance of high blood pressure, heart disease, stroke and kidney failure. A small share never have symptoms.
If Fabry disease runs in your family, a genetic counsellor can explain what testing means for you and your relatives.
Research-derived gene–drug associations only — not a prescription, dosing guide, or medical advice. Always follow your prescriber's guidance.
| Gene | Drug | What the research shows |
|---|---|---|
| GLA | Migalastat | Migalastat (Galafold) is a capsule that works only for some GLA typos. Certain typos make an enzyme that is misshapen and gets stuck before it reaches the place where it does its work, although it could still do the work. Migalastat holds that enzyme in shape so it can get there. The label calls these typos "amenable" and decides which ones they are from lab tests. So the gene result decides whether the medicine is an option at all: it is for adults with Fabry disease and an amenable typo. The dose is 123 mg every other day, with no food or caffeine for 2 hours before and 2 hours after. (GALAFOLD (migalastat) US prescribing information, revised June 2023 (DailyMed): sections 1, 2.1, 2.2, 8.6 and 12.1. This is the label itself, not a CPIC guideline.) |
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Fabry Disease. MyGeneLog™. https://www.mygenelog.com/conditions/fabry-disease
It is an inherited condition in which a fat called globotriaosylceramide builds up in the body's cells because the enzyme that clears it, made from the GLA gene, is missing or weak. Over time it can damage the kidneys, heart and brain.
Yes. It is X-linked: the GLA gene is on the X chromosome. One typo causes it in men. In women one typo usually causes milder signs, but many women still have serious problems.
An estimated 1 in 1,000 to 9,000 people. The later-onset form, which mainly affects the heart, kidneys or the blood vessels of the brain, is probably more common than the classic form.
Migalastat (Galafold) only works for certain GLA typos, called "amenable", that make an enzyme which can still work but is misshapen. Its US label is for adults with Fabry disease and an amenable typo, so the gene result decides whether it is an option.
Yes. Although it is passed down on the X chromosome, many women with one typo have a higher chance of high blood pressure, heart disease, stroke and kidney failure. A small share never have symptoms.
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