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Disorders affecting vitamin B6 metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT. Wilson MP, et al. J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. J Inherit Metab Dis. 2019. PMID: 30671974 Review.
Because of the vital role of PLP in neurotransmitter metabolism, particularly synthesis of the inhibitory transmitter gamma-aminobutyric acid, it is not surprising that various inborn errors leading to PLP deficiency manifest as B(6) -responsive epilepsy, usually of early …
Because of the vital role of PLP in neurotransmitter metabolism, particularly synthesis of the inhibitory transmitter gamma-aminobutyric aci …
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP. Whyte MP. Nat Rev Endocrinol. 2016 Apr;12(4):233-46. doi: 10.1038/nrendo.2016.14. Epub 2016 Feb 19. Nat Rev Endocrinol. 2016. PMID: 26893260 Review.
Severely affected infants sometimes also have hypercalcaemia and hyperphosphataemia due to the blocked entry of minerals into the skeleton, and pyridoxine-dependent seizures from insufficient extracellular hydrolysis of pyridoxal 5'-phosphate, the major circulating …
Severely affected infants sometimes also have hypercalcaemia and hyperphosphataemia due to the blocked entry of minerals into the skeleton, …
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. Pediatr Neurol. 2016. PMID: 26995068 Review.
BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. ...DISCUSSION: The phenotypic spectrum of pyridoxine-dependent epilepsy is wide, including a myria …
BACKGROUND: Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin ( …
Neonatal epilepsies: Clinical management.
Cornet MC, Sands TT, Cilio MR. Cornet MC, et al. Semin Fetal Neonatal Med. 2018 Jun;23(3):204-212. doi: 10.1016/j.siny.2018.01.004. Epub 2018 Jan 31. Semin Fetal Neonatal Med. 2018. PMID: 29426806 Review.
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-onset epilepsy, often linked to a pathogenic genetic variant. This defect may disrupt cortical development (e.g., lissencephaly, focal …
Whereas the majority of seizures in neonates are related to acute brain injury, a substantial minority are the first symptom of a neonatal-o …
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Plecko B. Plecko B. Handb Clin Neurol. 2013;113:1811-7. doi: 10.1016/B978-0-444-59565-2.00050-2. Handb Clin Neurol. 2013. PMID: 23622403 Review.
To date we know of four inborn errors of autosomal recessive inheritance that lead to vitamin B6-dependent seizures. Among these, pyridoxine-dependent seizures due to antiquitin deficiency is by far the most common, although exact incidence data are lacking. …
To date we know of four inborn errors of autosomal recessive inheritance that lead to vitamin B6-dependent seizures. Among these, …
Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review.
Yazdani M, Elgstøen KBP. Yazdani M, et al. Seizure. 2021 Oct;91:369-373. doi: 10.1016/j.seizure.2021.07.014. Epub 2021 Jul 17. Seizure. 2021. PMID: 34298455 Free article. Review.
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy that is responsive to pharmacologic doses of vitamin B(6). ...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy that is re …
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.
Gül-Mert G, İncecik F, Hergüner MÖ, Ceylaner S, Altunbaşak Ş. Gül-Mert G, et al. Turk J Pediatr. 2015 Jul-Aug;57(4):394-397. Turk J Pediatr. 2015. PMID: 27186704 Review.
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characterized by intractable seizures which are usually resistant to all antiepileptic drugs but respond to pharmacological doses of pyridoxine …
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive enzyme defect in the vitamin B6 metabolism characteri …
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. ...To make sure that late and masked response is not missed, treatment with …
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic e …
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.
Navarro-Abia V, Soriano-Ramos M, Núñez-Enamorado N, Camacho-Salas A, Martinez-de Aragón A, Martín-Hernández E, Simón-de Las Heras R. Navarro-Abia V, et al. Brain Dev. 2018 Apr;40(4):348-352. doi: 10.1016/j.braindev.2017.12.005. Epub 2017 Dec 30. Brain Dev. 2018. PMID: 29295802 Review.
INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. ...
INTRODUCTION: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharm …
Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.
Sharma S, Prasad AN. Sharma S, et al. Int J Mol Sci. 2017 Jul 2;18(7):1384. doi: 10.3390/ijms18071384. Int J Mol Sci. 2017. PMID: 28671587 Free PMC article. Review.
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. ...Some of these disorders are amenable to specific treatment interventions; hence timely and appropriate diagnosis is critical …
Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patien …
29 results