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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complex chains of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins).</p><p>AGA gene variants result in a lack (deficiency) of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. As a result, glycoproteins can build up within the lysosomes. Excess glycoproteins disrupt the normal functions of the cell and can result in cell death. A buildup of glycoproteins seems to particularly affect nerve cells in the brain; loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Aspartylglucosaminuria?"},{"bodyHtml":"<p>Intellectual disability and movement problems worsen in adolescence. Most people with this disorder lose much of the speech they have learned, and affected adults usually have only a few words in their vocabulary. Adults with aspartylglucosaminuria often have psychological disorders and may develop seizures.</p><p>People with aspartylglucosaminuria may also have bones that become progressively weak and prone to fracture (osteoporosis), an unusually large range of joint movement (hypermobility), and loose skin. Affected individuals tend to have a characteristic facial appearance that includes widely spaced eyes (ocular hypertelorism), small ears, and full lips. The nose is short and broad and the face is usually square-shaped. They often have poor oral health, including infections and gum disease (gingivitis). Children with this condition may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short with a small head size (microcephaly). Individuals with aspartylglucosaminuria usually survive into mid-adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/aspartylglucosaminuria\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"aspartylglucosaminuria","sourceDocuments":[{"name":"Aspartylglucosaminuria","reviewed":"2008-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:31.461683+00:00","label":"Causes","pageSha256":"5563fa966e349c58f312dfb8ec9e388e76faacb09cc683bbc966c8fb9aed6d64","sourceUrl":"https://medlineplus.gov/genetics/condition/aspartylglucosaminuria/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/aspartylglucosaminuria"}],"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":"Aspartylglucosaminuria"},"schemaVersion":1}