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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the CBS, MTHFR, MTR, MTRR, and MMADHC genes cause homocystinuria.</p><p>Variants in the CBS gene cause classic homocystinuria. The CBS gene provides instructions for making an enzyme called cystathionine beta-synthase. This enzyme helps break down the amino acid methionine. Specifically, this enzyme is responsible for converting the amino acid homocysteine to a molecule called cystathionine. Variants in the CBS gene disrupt the function of cystathionine beta-synthase, preventing homocysteine from being used properly. As a result, homocysteine and methionine build up in the blood. Some of the excess homocysteine is excreted in urine.</p><p>Rarely, homocystinuria can be caused by variants in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Variants in any of these genes prevent the enzymes from functioning properly, which leads to a buildup of homocysteine in the body. Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/homocystinuria/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Homocystinuria?"},{"bodyHtml":"<p>The most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.</p><p>Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anemia, which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).</p><p>The signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/homocystinuria\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"homocystinuria","sourceDocuments":[{"name":"Homocystinuria","reviewed":"2023-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:15.562160+00:00","label":"Causes","pageSha256":"ac3eea72e0b47de22422b1d2815e690e342a205b979f9a465f923c3e6dcc0a2b","sourceUrl":"https://medlineplus.gov/genetics/condition/homocystinuria/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/homocystinuria"}],"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":"Homocystinuria"},"schemaVersion":1}