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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the PNPO gene cause PNPO deficiency. The PNPO gene provides instructions for producing an enzyme called pyridox(am)ine 5&#x27;-phosphate oxidase. This enzyme is involved in the breakdown (metabolism) of vitamin B6 into pyridoxal 5&#x27;-phosphate (PLP), the active form of vitamin B6. PLP is necessary for protein metabolism and the processing of chemicals that transmit signals in the brain (neurotransmitters).</p><p>Variants in the PNPO gene cause the gene to produce a version of the pyridox(am)ine 5&#x27;-phosphate oxidase enzyme that is unable to metabolize vitamin B6, leading to a deficiency of PLP. A shortage of PLP can disrupt the function of many other proteins and enzymes that need PLP in order to be effective. Because PLP plays an important role in neurotransmitter metabolism, a lack of PLP is believed to cause the seizures that are characteristic of PNPO deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Pyridoxal phosphate-responsive seizures?"},{"bodyHtml":"<p>Anticonvulsant medications, which are usually given to control seizures, are not effective in people with PNPO deficiency. Instead, individuals with PNPO deficiency require lifelong treatment with one of the following forms of vitamin B6: pyridoxal 5&#x27;-phosphate (PLP) or pyridoxine. If untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death. Even though seizures can be controlled with PLP or pyridoxine, people with PNPO deficiency may still experience neurological problems such as developmental delays, learning disorders, and uncontrolled movements (dystonia).</p><p>Other conditions present with signs and symptoms that are very similar to those seen in people with PNPO deficiency. These include pyridoxine-dependent epilepsy caused by changes in the ALDH7A1 gene and PLPBP deficiency caused by changes in the PLPBP gene. Individuals with these conditions are also typically treated with a form of vitamin B6.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pyridoxal-phosphate-responsive-seizures","sourceDocuments":[{"name":"Pyridoxal phosphate-responsive seizures","reviewed":"2024-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:36.101088+00:00","label":"Causes","pageSha256":"b8665921501abe718c3bfbd80500a3de41ad76cca171860a97b4545210d6ca3b","sourceUrl":"https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pyridoxal-phosphate-responsive-seizures"}],"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":"Pyridoxal phosphate-responsive seizures"},"schemaVersion":1}