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| content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/24 21:08] – [Standardized Vitamin B6 Trial] biju.hameed@gmail.com | content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/24 21:09] (current) – biju.hameed@gmail.com |
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| ====== Pyridoxal 5 Phosphate Dependent Epilepsy ====== | ====== Pyridoxal 5 Phosphate Dependent Epilepsy ====== |
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| PNPO deficiency [[https://www.omim.org/entry/603287|(OMIM 6032870)]] is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate but (classically) not pyridoxine. Seizures are often characterized by irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. | PNPO deficiency [[https://www.omim.org/entry/603287|(OMIM 6032870)]] is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate but (classically) not pyridoxine. Seizures are often characterized by irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. |
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