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content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/17 21:28] – 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 ====== | ||
- | {{page> | ||
PNPO deficiency [[https:// | PNPO deficiency [[https:// | ||
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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[(: |
* 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' | * 60% of individuals with PNPO deficiency who are pyridoxal 5' | ||
* 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' |
- | respiratory arrest with initial dose of either pyridoxine (PN) or pyridoxal 5' | + | |
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' | + | * there are no biomarkers to differentiate from Pyridoxal 5' |
+ | ==== References ==== | ||