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demonstrate potential for improved biomarkers, development, and behavior in patients treated with lysine restriction in addition to pyridoxine supplementation. In trial, lysine restriction of 70–100 mg/kg/day in children less than 1 year of age, 45–80 mg/kg/day in children between 1–7 years of age, and 20–45 mg/kg/day in children older than 7 years of age were prescribed. Despite the potential of additional benefit from lysine restriction, vitamin B6 supplementation remains the main-stay of treatment given lack of studies thus far demonstrating the safety and efficacy of lysine restriction for this purpose.
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recessive manner and is estimated to affect around 1 in 400,000 to 700,000 births, though one study conducted in
Germany estimated a prevalence of 1 in 20,000 births. The ALDH7A1 gene encodes for the enzyme antiquitin or α-aminoadipic semialdehyde dehydrogenase, which is involved with the catabolism
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are frequently elevated in patients with PDE, though it is a non-specific biomarker. α-aminodipic semialdehyde is elevated in urine and plasma and is a more specific biomarker for PDE. Improvements in these biomarkers have been reported with the implementation of a lysine-restricted diet. Initial
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supplementation, intellectual disability is frequently seen in patients with PDE. Because the affected enzyme antiquitin is involved in the cerebral lysine degradation pathway, lysine restriction as an additional treatment modality has recently been explored. Studies have been published which
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Stockler, S; Plecko, B; Gospe, SM; Coulter-Mackie, M; et, al. (September 2011). "Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up".
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characterized by intractable seizures in the prenatal and neonatal period. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. More recently, pathogenic variants within the
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134:. An optimal dose has not yet been established, but doses of 50–100 mg/day or 15–30 mg/kg/day have been proposed. Importantly, excessive doses of vitamin B
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studies evaluating the safety and efficacy of lysine restriction evaluated developmental and cognitive outcomes by age-appropriate tests and parental observations.
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Pearl, PL; Gospe, SM (22 April 2014). "Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier".
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318:"Global brain dysfunction in an infant with pyridoxine dependency: evaluation with EEG, evoked potentials, MRI, and PET"
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can result in irreversible neurological damage, and therefore several guidelines recommend between 200 mg (
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and remission from seizures are often maintained on daily therapeutic doses of vitamin B
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van
Karnebeek, CDM; Hartmann, H; Jaggumantri, S; Bok, LA; et, al. (November 2012).
175:- pyridoxine-responsive epilepsy discovered in 2016 and caused by mutations of the
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Parsley, LK; Thomas, JA (December 2011). "The patient with infantile seizures".
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medications, but seizures rapidly cease with therapeutic intravenous doses of
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185:- in this rare syndrome, some patients have pyridoxine-dependent epilepsy.
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Pyridoxine-dependent seizure (PDS), vitamin B6 responsive epilepsy
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GeneReview/NCBI/NIH/UW entry on
Pyridoxine-Dependent Seizures
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Wu T, Yin F, Guang S, He F, Yang L, Peng J (May 2020).
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Shih, JJ; Kornblum, H; Shewmon, DA (September 1996).
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Despite remission of seizure activity with vitamin B
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491:Orphanet Journal of Rare Diseases
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280:Molecular Genetics and Metabolism
222:"Pyridoxine-Dependent Epilepsy"
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615:Pyridoxine-dependent epilepsy
404:Current Opinion in Pediatrics
33:Pyridoxine-dependent epilepsy
416:10.1097/MOP.0b013e32834b930c
372:10.1212/WNL.0000000000000351
18:Pyridoxine-dependent seizure
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220:Gospe, SM (Dec 7, 2001).
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619:Genetics Home Reference
102:PDE is inherited in an
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79:-dependent epilepsy
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190:References
154:Monitoring
77:Pyridoxine
56:Pyridoxine
591:eMedicine
360:Neurology
322:Neurology
125:vitamin B
115:Treatment
104:autosomal
68:Neurology
63:Specialty
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239:June 19,
234:20301659
167:See also
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241:2014
230:PMID
509:PMC
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