Pnpo deficiency - seizures

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Arb26

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My 2 month old has been diagnosed with rare genetic condition of PNPO deficiency at birth following onset of cluster of seizures.

She is currently on PLP therapy.

Any experiences to share with this condition and development prognosis?

Thanks
 
Hi Arb26, welcome to CWE.

We have a member here @Andrew that has PNPO deficiency and manages his seizures with B vitamins:

Vitamins and Epilepsy

Has anyone had problems taking vitamins? Calcium and magnesium are involved in neuro transmitter function. I think my sodium levels got really low about a week ago (based on previous experience and tests). So, I started taking some vitamins. I'm feeling better, but I'm also more seizure-y...
www.coping-with-epilepsy.com www.coping-with-epilepsy.com
 
Hi Arb26,

Just wondering how your daughter is doing regarding PLP therapy.

A

Thread '(((*** 40 years on vitamin b6 ***)))'

20th February 2011: It was on this day, 40 years ago, that my then paediatrician first administered Pyridoxine HCl (vitamin B6) in the hopes that it would stop my severe seizures.

Here is my story regarding B vitamins:

I had my first seizure at two weeks old. I spent the first six months of my life in and out of hospital. Doctors were mystified by my illness. None of the ‘normal’ antiepileptic drugs that were administered had any positive effects. At this time I was having many ‘different types’ of seizures a day some of which went status. Countless tests were being done including...

Andrew (PNPO deficient for over 54 years, genetically confirmed in 2012).
 
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I have just noticed a typographical error in my above post sign off. It is over 53 years (54 years on 20th Feb. 2025) since B6 Dependent seizures were found. What am I like! But PNPO Deficiency was genetically confirmed in 2012. Having said that I was born with it.
 
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