Pyridoxine deficiency

Common Name(s)

Pyridoxine deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pyridoxine deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pyridoxine deficiency" returned 21 free, full-text research articles on human participants. First 3 results:

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
 

Author(s): Renata Oliveira, Cristina Pereira, Fidjy Rodrigues, Claudia Alfaite, Paula Garcia, Conceição Robalo, Isabel Fineza, Olavo Gonçalves, Eduard Struys, Gajja Salomons, Cornelis Jakobs, Luísa Diogo

Journal: Epileptic Disord. 2013 Dec;15(4):400-6.

 

We report 4 pyridoxine-dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine-dependent epilepsy was confirmed by biochemical ...

Last Updated: 17 Dec 2013

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Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
 

Author(s): Eduard Alexander Struys, Benjamin Nota, Abdellatif Bakkali, Saad Al Shahwan, Gajja Sophi Salomons, Brahim Tabarki

Journal: Pediatrics. 2012 Dec;130(6):e1716-9.

 

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased ...

Last Updated: 3 Dec 2012

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Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
 

Author(s): Hans Hartmann, Michael Fingerhut, Cornelis Jakobs, Barbara Plecko

Journal: Dev Med Child Neurol. 2011 Dec;53(12):1150-3.

 

Pyridoxine-dependent epilepsy (PDE) is a treatable inborn error of metabolism with autosomal recessive inheritance. Antenatal and postnatal prophylactic administration of pyridoxine has been recommended to improve the developmental outcome in possible future pregnancies. We report ...

Last Updated: 18 Nov 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pyridoxine deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

Pyridoxine deficiency: new approaches in immunosuppression and chemotherapy.
 

Author(s): A Trakatellis, A Dimitriadou, M Trakatelli

Journal: Postgrad Med J. 1997 Oct;73(864):617-22.

 

Pyridoxine deficiency leads to impairment of immune responses. It appears that the basic derangement is the decreased rate of production of one-carbon units necessary for the synthesis of nucleic acids. The key factor is a pyridoxine enzyme, serine hydroxymethyltransferase. This enzyme ...

Last Updated: 24 Mar 1998

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.