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content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/17 21:40] – [Standardized Vitamin B6 Trial] biju.hameed@gmail.comcontent: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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 ==== Standardized Vitamin B6 Trial ==== ==== Standardized Vitamin B6 Trial ====
  
-  * A standardized vitamin B6 trial [Wilson et al 2019] may raise suspicion regarding PNPO deficiency+  * A standardized vitamin B6 trial[(:cite:pmid30671974>{{pmid>long:30671974}})] may raise suspicion regarding PNPO deficiency
   * 40% of individuals with PNPO deficiency are responsive to pyridoxine (PN) and seizures. In a majority of these patients seizures will remit within 1 to 3 days, but it could take upto several days in some cases   * 40% of individuals with PNPO deficiency are responsive to pyridoxine (PN) and seizures. In a majority of these patients seizures will remit within 1 to 3 days, but it could take upto several days in some cases
   * 60% of individuals with PNPO deficiency who are pyridoxal 5'-phosphate (PLP) responsive, the majority show cessation of seizures in one to three days, accompanied by improvement of abnormal EEG findings.   * 60% of individuals with PNPO deficiency who are pyridoxal 5'-phosphate (PLP) responsive, the majority show cessation of seizures in one to three days, accompanied by improvement of abnormal EEG findings.
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   * there are no biomarkers to differentiate from Pyridoxal 5'-Phosphate-Binding Protein Deficiency (//PLPBP//)( also called PLPHP deficiency). //PLPBP// gene encodes for the protein PLPHP, believed to be crucial for B6 homeostasis   * there are no biomarkers to differentiate from Pyridoxal 5'-Phosphate-Binding Protein Deficiency (//PLPBP//)( also called PLPHP deficiency). //PLPBP// gene encodes for the protein PLPHP, believed to be crucial for B6 homeostasis
  
 +==== References ====
  
  
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