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Review compares diagnostic methods and treatments for managing Fabry disease, highlighting new options.
Abstract:Fabry disease is a rare X-linked lysosomal storage disorder triggered by mutations in the GLA gene. These mutationscan reduce levels of α-galactosidase A (α-Gal A) enzyme, causing globotriaosylceramide (Gb3) and similarglycosphingolipids to accumulate over time in vital areas like the heart, kidneys, nervous system, and blood vessellinings. It often presents itself in childhood with neuropathic pain, angiokeratomas (red skin spots), and abdomendiscomfort, but can progress to life-altering problems like cardiomyopathy, kidney failure, and stroke. Procedureslike enzyme activity tests, genetic screening, and biomarkers have made diagnosing more convenient. Right now,enzyme replacement therapy (ERT) with lab-made α-Gal A is the go-to treatment, though it means lifelong infusions,potential immune reactions, and inconsistent results for some. For those with certain "fixable" mutations, chaperonetherapy using migalastat helps stabilize and amp up the body's own enzyme. Substrate reduction therapy (SRT) aimsto reduce Gb3 production, while gene therapy targets the genetic flaw itself—potentially chronic relief for thecondition. Ongoing work in gene editing and advanced enzymes holds hope for precise, game-changing treatmentsthat close these gaps and help patients thrive.
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Hirni J Patel, Ms. Dhara Patel, Ms. Aastha Hingorani, Ms. Devi Patel (2026) studied this question.
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