![]() The GLA gene produces the alpha-GAL enzyme that helps break down fatty substances (sphingolipids). Some females don’t have symptoms or have mild, easy-to-dismiss symptoms, so the condition frequently goes undiagnosed in women.Ĭhildren inherit a mutation (change) in the galactosidase alpha (GLA) gene on the X chromosome from a parent. It affects about one in every 1,500 to 4,000 males.Įxperts aren’t sure how many females have Fabry disease. ![]() Late-onset or atypical Fabry disease is more common. The first indication of a problem may be kidney failure or heart disease.Īpproximately one out of every 40,000 males has classic Fabry disease. Late-onset/atypical type: People with late-onset Fabry disease don’t have symptoms until they’re in their 30s or older.Symptoms get progressively worse over time. One hallmark disease symptom - a painful burning sensation in the hands and feet - may be noticeable as early as age two. Classic type: Symptoms of classic Fabry disease appear during childhood or the teenage years.The types of Fabry disease reflect a person’s age when symptoms first appear. It’s sometimes called Anderson-Fabry disease. It is an inherited condition passed from parent to child. Fabry disease affects the heart, kidneys, brain, central nervous system and skin. Without functioning alpha-GAL enzymes, harmful levels of sphingolipids build up in blood vessels and tissues. These enzymes prevent sphingolipids, a fat-like substance, from collecting in blood vessels and tissue. People who have Fabry disease don’t produce enough healthy versions of an enzyme (blood chemical) called alpha-galactosidase A (alpha-GAL).
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