Results 31 to 40 of about 908,246 (301)

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease, 2020
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is an autosomal recessive condition due to a deficiency of α‐aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation.
C. Coughlin, L. Tseng, J. Abdenur, C. Ashmore, F. Boemer, L. Bok, M. Boyer, D. Buhas, P. Clayton, A. Das, Hanka Dekker, A. Evangeliou, F. Feillet, E. Footitt, S. Gospe, H. Hartmann, Majdi Kara, E. Kristensen, J. Lee, R. Lilje, N. Longo, R. Lunsing, P. Mills, M. Papadopoulou, P. Pearl, F. Piazzon, B. Plecko, A. Saini, S. Santra, D. Sjarif, S. Stockler-Ipsiroglu, P. Striano, J. V. Van Hove, N. Verhoeven-Duif, F. Wijburg, S. Zuberi, C. V. van Karnebeek   +36 more
semanticscholar   +1 more source

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Journal of Inherited Metabolic Disease, 2020
Cystathionine β‐synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications.
V. Kožich, J. Sokolová, A. Morris, M. Pavlíková, F. Gleich, S. Kölker, J. Krijt, C. Dionisi-Vici, M. Baumgartner, H. Blom, M. Huemer   +10 more
semanticscholar   +1 more source

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source

Glutamate carboxypeptidase II inhibition behaviorally and physiologically improves pyridoxine-induced neuropathy in rats. [PDF]

PLoS ONE, 2014
Pyridoxine is used as a supplement for treating conditions such as vitamin deficiency as well as neurological disorders such as depression, epilepsy and autism.
Michelle C Potter, Krystyna M Wozniak, Noelle Callizot, Barbara S Slusher   +3 more
doaj   +1 more source

Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox

Epilepsy & Behavior Reports, 2020
A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication.
Smilu Mohanlal, Parayil Sankaran Bindu, Sachin Sureshbabu, Suresh Kumar   +3 more
doaj   +1 more source

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

American Journal of Medical Genetics. Part A, 2020
Classic homocystinuria is due to deficiency of cystathionine beta‐synthase (CBS), a pyridoxine‐dependent enzyme that, depending on the molecular variants, may be co‐factor responsive. Elevated methionine is often used as the primary analyte to detect CBS
E. Ames, A. Scott, Kara B Pappas, Shawn Moloney, R. Conway, Ayesha Ahmad   +5 more
semanticscholar   +1 more source

Acquired Sideroblastic Anemia: An exploratory Comparative Statistical Analysis Between Clonal and Non-clonal cases

Mediterranean Journal of Hematology and Infectious Diseases, 2022
Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic ...
Dina Sameh Soliman, Samah Kohla, Shehab Fareed, Susanna Akiki , Aliaa Amer, Ibrahim Ganwo, Prem Chandra, Halima El-Omri, Feryal Ibrahim   +8 more
doaj   +1 more source

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

Frontiers in Neurology, 2022
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Daniela Buhas, Myriam Srour, Myriam Srour, Myriam Srour   +8 more
doaj   +1 more source

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +1 more source

West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

Frontiers in Pediatrics, 2021
Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i ...
Marc Gibaud, Magalie Barth, Jérémie Lefranc, Karine Mention, Nathalie Villeneuve, Manuel Schiff, Hélène Maurey, Marie-Anne Barthez, Isabelle Caubel, Mondher Chouchane, Diane Doummar, Manoëlle Kossorotoff, Marie-Dominique Lamblin, Agathe Roubertie, Rima Nabbout, Patrick Van Bogaert, Patrick Van Bogaert   +16 more
doaj   +1 more source