TY - JOUR
T1 - A vitamin a day keeps the doctor away
T2 - The need for high quality pyridoxal-5′-phosphate
AU - Stolwijk, N. N.
AU - Brands, M. M.
AU - Smit, L. S.
AU - van der Wel, V.
AU - Hollak, C. E. M.
AU - van Karnebeek, C. D.
N1 - Funding Information: CK's research is supported by a Stichting Metakids grant. Publisher Copyright: © 2022 The Authors
PY - 2022/7/1
Y1 - 2022/7/1
N2 - Background: A rare subset of vitamin B6 responsive seizure disorders does not respond to pyridoxine, and requires the active form of vitamin B6, pyridoxal-5′-phosphate (PLP), to maintain seizure control. Patients with PLP-responsive seizures are dependent on chronic PLP treatment, yet no licensed PLP product is available. PLP food supplements, a product category regulated less stringently than medication, may prove of insufficient effectiveness and safety. Here we describe and discuss three patient scenarios which illustrate this conundrum. Methods: Medical and laboratory records were reviewed with retrospective extraction for three unrelated patients who suffered complications during treatment with PLP food supplements. Results: – Two cases of PNPO deficiency and one case of PLP-dependent epileptic encephalopathy without a (genetic) diagnosis are reported. These patients are critically dependent on PLP for seizure control and have suffered complications due to insufficient quality of these food supplements during the course of treatment. Complications include the occurrence of seizures following the administration of suspected low quality PLP, inactive PLP due to light exposure, a PLP intoxication, resisting administration and post-administration vomiting as a result of the ingestion of large amounts of capsules per day. Conclusion: – This case series illustrates that the reliance on food supplements as anti-seizure therapy is not without risk. The treatment of PLP-dependent seizures exemplifies that PLP is administered as medication, thus there is a clear need for licensed vitamin products of pharmaceutical quality.
AB - Background: A rare subset of vitamin B6 responsive seizure disorders does not respond to pyridoxine, and requires the active form of vitamin B6, pyridoxal-5′-phosphate (PLP), to maintain seizure control. Patients with PLP-responsive seizures are dependent on chronic PLP treatment, yet no licensed PLP product is available. PLP food supplements, a product category regulated less stringently than medication, may prove of insufficient effectiveness and safety. Here we describe and discuss three patient scenarios which illustrate this conundrum. Methods: Medical and laboratory records were reviewed with retrospective extraction for three unrelated patients who suffered complications during treatment with PLP food supplements. Results: – Two cases of PNPO deficiency and one case of PLP-dependent epileptic encephalopathy without a (genetic) diagnosis are reported. These patients are critically dependent on PLP for seizure control and have suffered complications due to insufficient quality of these food supplements during the course of treatment. Complications include the occurrence of seizures following the administration of suspected low quality PLP, inactive PLP due to light exposure, a PLP intoxication, resisting administration and post-administration vomiting as a result of the ingestion of large amounts of capsules per day. Conclusion: – This case series illustrates that the reliance on food supplements as anti-seizure therapy is not without risk. The treatment of PLP-dependent seizures exemplifies that PLP is administered as medication, thus there is a clear need for licensed vitamin products of pharmaceutical quality.
KW - Neonatal epileptic encephalopathy
KW - PNPO deficiency
KW - Pyridoxal-5′-phosphate
KW - Seizure disorders
KW - Vitamin B6 disorders
UR - http://www.scopus.com/inward/record.url?scp=85131400037&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ejpn.2022.04.011
DO - https://doi.org/10.1016/j.ejpn.2022.04.011
M3 - Article
C2 - 35636100
SN - 1090-3798
VL - 39
SP - 25
EP - 29
JO - European journal of paediatric neurology : EJPN
JF - European journal of paediatric neurology : EJPN
ER -