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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of sugar molecules (oligosaccharides) that are attached to certain fats (glycolipids) and proteins (glycoproteins). Alpha-L-fucosidase is responsible for cutting off (cleaving) a sugar molecule called fucose toward the end of the breakdown process.</p><p>FUCA1 gene variants severely reduce or eliminate the activity of the alpha-L-fucosidase enzyme. A loss of enzyme activity results in an incomplete breakdown of glycolipids and glycoproteins. These compounds gradually accumulate within various cells and tissues throughout the body. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins. Damage to brain cells is thought to cause the neurological symptoms of fucosidosis. Glycolipids and glycoproteins also accumulate in other organs such as the liver, spleen, and skin.</p><p>Alpha-L-fucosidase is found in the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions like fucosidosis, that cause molecules to build up inside the lysosomes, are known as lysosomal storage disorders.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/fucosidosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Fucosidosis?"},{"bodyHtml":"<p>In the past, fucosidosis has been divided into two types based on the symptoms and age of onset. Type 1 was used to describe the more severe form of the disorder, with symptoms typically appearing in infancy. Type 2 was used to describe cases with milder symptoms and a slower progression. Currently, many researchers consider the condition to be a spectrum with a wide range in severity.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/fucosidosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"fucosidosis","sourceDocuments":[{"name":"Fucosidosis","reviewed":"2024-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:39.670624+00:00","label":"Causes","pageSha256":"7a20d40907958741e15e89de2ac2a709ed929e9469372df5d39f2beaf0b14fe6","sourceUrl":"https://medlineplus.gov/genetics/condition/fucosidosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/fucosidosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Fucosidosis"},"schemaVersion":1}