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content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/15 12:38] – biju.hameed@gmail.com | content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/24 21:09] (current) – biju.hameed@gmail.com | ||
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- | PNPO deficiency [[https:// | + | ====== Pyridoxal 5 Phosphate Dependent Epilepsy ====== |
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+ | PNPO deficiency [[https:// | ||
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+ | Mutations in the PNPO gene are responsible for pyridoxal 5' | ||
+ | ===== Classic PNPO deficiency ===== | ||
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+ | * defined as neonatal onset in premature infants and neonates | ||
+ | * Intrauterine seizures, recognized by mothers as episodic, repetitive rhythmic movements | ||
+ | * Fetal distress before delivery | ||
+ | * Low APGAR scores | ||
+ | * Difficult-to-treat seizures irrespective of a history of fetal distress | ||
+ | * Epileptic encephalopathy or signs of encephalopathy (inconsolable crying, hyperalertness, | ||
+ | * Seizures and neurologic findings (e.g., roving eye movements, hypotonia, dystonia) and/or systemic signs (e.g., respiratory distress, anemia, failure to gain weight, abdominal distention, poor feeding) | ||
+ | * Cryptogenic infantile or epileptic spasms | ||
+ | ===== Late-onset PNPO deficiency===== | ||
+ | * onset after age 28 days in individuals of any age | ||
+ | * Cryptogenic seizures refractory to common anticonvulsants | ||
+ | ==== Standardized Vitamin B6 Trial ==== | ||
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+ | * 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 | ||
+ | * 60% of individuals with PNPO deficiency who are pyridoxal 5' | ||
+ | * before initiating the vitamin B6 trial: | ||
+ | * Save plasma and urine; if available, freeze CSF at -80° | ||
+ | * 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' | ||
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+ | Steps1 | ||
+ | - Give PN 100mg IV, followed by 30 mg/kg/day IV or p.o. in 2-3 single doses over 1-3 days | ||
+ | - If PN is ineffective, | ||
+ | - If PN & folinic acid are ineffective, | ||
+ | If seizures stop: continue pyridoxine or PLP until results of biochemical and/or molecular testing are available | ||
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+ | === How to differentiate pyridoxine or pyridoxal phosphate responsive seizures from other Vitamin B6 responsive seizures === | ||
+ | * increased plasma and urinary alpha-aminoadipic semialdehyde is indicative of pyridoxine-dependent epilepsy – // | ||
+ | * increased sulfocysteine is indicative of [[molybdenum cofactor deficiency]] or isolated [[sulfite oxidase deficiency]]. | ||
+ | * there are no biomarkers to differentiate from Pyridoxal 5' | ||
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+ | ==== References ==== | ||
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