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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA.</p><p>The beta-ureidopropionase enzyme is involved in the last step of the process that breaks down pyrimidines. This step converts N-carbamyl-beta-aminoisobutyric acid to beta-aminoisobutyric acid and also breaks down N-carbamyl-beta-alanine to beta-alanine, ammonia, and carbon dioxide. Both beta-aminoisobutyric acid and beta-alanine are thought to play roles in the nervous system. Beta-aminoisobutyric acid increases the production of a protein called leptin, which has been found to help protect brain cells from damage caused by toxins, inflammation, and other factors. Research suggests that beta-alanine is involved in sending signals between nerve cells (synaptic transmission) and in controlling the level of a chemical messenger (neurotransmitter) called dopamine.</p><p>UPB1 gene mutations can reduce or eliminate beta-ureidopropionase enzyme activity. Loss of this enzyme function reduces the production of beta-aminoisobutyric acid and beta-alanine, and leads to an excess of their precursor molecules, N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine, which are released in the urine. Reduced production of beta-aminoisobutyric acid and beta-alanine may impair the function of these molecules in the nervous system, leading to neurological problems in some people with beta-ureidopropionase deficiency. The extent of the reduction in enzyme activity caused by a particular UPB1 gene mutation, along with other genetic and environmental factors, may determine whether people with beta-ureidopropionase deficiency develop neurological problems and the severity of these problems.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Beta-ureidopropionase deficiency?"},{"bodyHtml":"<p>People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition.</p><p>In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"beta-ureidopropionase-deficiency","sourceDocuments":[{"name":"Beta-ureidopropionase deficiency","reviewed":"2014-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:50.855072+00:00","label":"Causes","pageSha256":"48da130a77b628366ffb2faf3d37c2ec78161159c44aa9a5f81aba52c72a34ca","sourceUrl":"https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/beta-ureidopropionase-deficiency"}],"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":"Beta-ureidopropionase deficiency"},"schemaVersion":1}