Results 111 to 120 of about 426 (124)

MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

Biochemical/Metabolic Genetics and Clinical Genetics, 2015
Background and objectives Seventy-five percent of patients with pyridoxine-dependent epilepsy (PDE) due to Antiquitin (ATQ) deficiency suffer developmental delay and/or intellectual disability (IQ). Methods In two open-label observational studies, seven children with confirmed ATQ deficiency were started on dietary lysine restriction with regular ...
Clara DM van Karnebeek, W Al-Hertani, S Jaggumantri, C Coughlin, S Stockler, H Hans Hartmann, J Van Hove   +6 more
openaire   +1 more source

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Human Mutation, 2006
Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B(6)) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified as having definite, probable, or possible PDE.
Barbara, Plecko, Karl, Paul, Eduard, Paschke, Sylvia, Stoeckler-Ipsiroglu, Eduard, Struys, Cornelis, Jakobs, Hans, Hartmann, Thomas, Luecke, Matteo, di Capua, Christoph, Korenke, Christiane, Hikel, Elke, Reutershahn, Michael, Freilinger, Fritz, Baumeister, Friedrich, Bosch, Wolfgang, Erwa   +15 more
openaire   +2 more sources

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism, 2012
Pyridoxine dependent epilepsy is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). In order to characterize the effects of a series of twelve disease-associated ALDH7A1 missense mutations on antiquitin ...
Coulter-Mackie, M.B., Li, A., Lian, Q., Struijs, E.A., Stockler, S., Waters, P.J.   +5 more
openaire   +3 more sources

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

Developmental Medicine & Child Neurology, 2011
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 on a male offspring of a second pregnancy at risk for PDE.
Hartmann, H., Fingerhut, M., Jakobs, C.A.J.M., Plecko, B.   +3 more
openaire   +3 more sources

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism, 2014
Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). We selected four PDE-associated missense ALDH7A1 mutations, p.V367F, p.F410L, p.Q425R, and p.C450S, generated them in a ...
Coulter-Mackie, Marion B., Tiebout, Sylvia, van Karnebeek, Clara, Stockler, Sylvia   +3 more
openaire   +3 more sources

The measurement of urinary Delta(1)-piperideine-6-carboxylate, the alter ego of alpha-aminoadipic semialdehyde, in Antiquitin deficiency.

2012
The assessment of urinary alpha-aminoadipic semialdehyde (alpha-AASA) has become the diagnostic laboratory test for pyridoxine dependent seizures (PDS). alpha-AASA is in spontaneous equilibrium with its cyclic form Delta(1)-piperideine-6-carboxylate (P6C); a molecule with a heterocyclic ring structure.
Struys, E.A., Bok, L.A., Emal, D., Houterman, S., Willemsen, M.A.A.P., Willemsen, M.A.A.P., Jakobs, C.   +6 more
openaire   +1 more source

MLO02 Dysmorphology in patients with pyridoxine-dependent seizures and mutations of the antiquitin (Aldh7a1) gene

European Journal of Paediatric Neurology, 2007
M. Topcu, G. Haliloglu, K. Karli Oguz, E. Struys, G. Salomons, C. Jakobs, T. Coskun   +6 more
openaire   +1 more source

Is Antiquitin a Mitochondrial Enzyme?

Journal of Cellular Biochemistry, 2010
Wing-Ping Fong
exaly  

Pyridoxine-Dependent Epilepsy Owing to Antiquitin Deficiency — Mutation in the ALDH7A1 Gene

Paediatrics and International Child Health, 2013
Beena Suresh, Sujatha Jagadeesh
exaly  

Cloning of the Black Seabream (Acanthopagrus schlegeli) Antiquitin Gene and Functional Characterization of Its Promoter Region

Molecular and Cellular Biochemistry, 2007
Christopher Cheng, Wing-Ping Fong, Chi-Bun Chan   +2 more
exaly