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--- content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/17 21:29] – [Standardized Vitamin B6 Trial] biju.hameed@gmail.com
+++ content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/24 21:08] – [Standardized Vitamin B6 Trial] biju.hameed@gmail.com
@@ Line 20: / Line 20: @@
 ==== 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
   * 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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   * 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]].
-  * 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 ====