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content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/15 22:01] – 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.
  
 Mutations in the PNPO gene are responsible for pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene is responsible for the production of an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme plays a crucial role in metabolizing vitamin B6 from food, specifically pyridoxine and pyridoxamine, into its active form known as pyridoxal 5'-phosphate (PLP). PLP is crucial for various bodily processes, such as protein metabolism and the creation of neurotransmitters that facilitate brain signaling. Mutations in the PNPO gene are responsible for pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene is responsible for the production of an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme plays a crucial role in metabolizing vitamin B6 from food, specifically pyridoxine and pyridoxamine, into its active form known as pyridoxal 5'-phosphate (PLP). PLP is crucial for various bodily processes, such as protein metabolism and the creation of neurotransmitters that facilitate brain signaling.
-===== Classic PNPO deficiency (defined as neonatal onset) in premature infants and neonates =====+===== Classic PNPO deficiency =====
  
 +  * defined as neonatal onset in premature infants and neonates
   * Intrauterine seizures, recognized by mothers as episodic, repetitive rhythmic movements   * Intrauterine seizures, recognized by mothers as episodic, repetitive rhythmic movements
   * Fetal distress before delivery   * Fetal distress before delivery
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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.
   * before initiating the vitamin B6 trial:   * before initiating the vitamin B6 trial:
     * Save plasma and urine; if available, freeze CSF at -80°     * Save plasma and urine; if available, freeze CSF at -80°
-    * Resuscitation equipment should be available due to the increased risk of apnea or +    * Resuscitation equipment should be available due to the increased risk of apnea or respiratory arrest with initial dose of either pyridoxine (PN) or pyridoxal 5'-phosphate (PLP)
-respiratory arrest with initial dose of either pyridoxine (PN) or pyridoxal 5'-phosphate (PLP)+
  
 Steps1 Steps1
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   * increased plasma and urinary alpha-aminoadipic semialdehyde is indicative of pyridoxine-dependent epilepsy – //ALDH7A1//   * increased plasma and urinary alpha-aminoadipic semialdehyde is indicative of pyridoxine-dependent epilepsy – //ALDH7A1//
   * increased sulfocysteine is indicative of [[molybdenum cofactor deficiency]] or isolated [[sulfite oxidase deficiency]].   * increased sulfocysteine is indicative of [[molybdenum cofactor deficiency]] or isolated [[sulfite oxidase deficiency]].
-  * there are no biomarkers to differentiate from Pyridoxal 5'-Phosphate-Binding Protein Deficiency (PLPBP) +  * 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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