Pyridoxine-Dependent Epilepsy and Antiquitin Deficiency Resulting in Neonatal-Onset Refractory Seizures [PDF]
Brain Sciences, 2021 Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive neurometabolic disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase (mutation in ALDH7A1 gene), more commonly known as antiquitin (ATQ).
Konrad Kaminiów +3 more
doaj +6 more sources
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency [PDF]
JIMD Reports, 2020 Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Shanti Balasubramaniam
exaly +5 more sources
Condensation of delta‐1‐piperideine‐6‐carboxylate with ortho‐aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency [PDF]
Journal of Inherited Metabolic Disease, 2020 AbstractAntiquitin (ATQ) deficiency leads to tissue, plasma, and urinary accumulation of alpha‐aminoadipic semialdehyde (AASA) and its Schiff base delta‐1‐piperideine‐6‐carboxylate (P6C). Although genetic testing of ALDH7A1 is the most definitive diagnostic method, quantifications of pathognomonic metabolites are important for the diagnosis and ...
Kristaps Klavins +2 more
exaly +7 more sources
Seabream antiquitin: Molecular cloning, tissue distribution, subcellular localization and functional expression [PDF]
FEBS Letters, 2005 Subsequent to our earlier report on the first purification of antiquitin protein from seabream liver and demonstration of its enzymatic activity [FEBS Letters 516 (2002) 183–186], we report herein the cloning of its full‐length cDNA sequence. The open reading frame encodes a protein of 511 amino acids.
Christopher H K Cheng, Wing-Ping Fong
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures [PDF]
Nature Medicine, 2006 We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase.
Peter Clayton +2 more
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First purification of the antiquitin protein and demonstration of its enzymatic activity [PDF]
FEBS Letters, 2002 Antiquitin is an evolutionarily conserved protein believed to play a role in the regulation of cellular turgor. Based on sequence analysis, this protein is classified as a member of the aldehyde dehydrogenase superfamily. All previous studies on antiquitin have been confined to the nucleotide level, and the protein has never been purified and ...
Christopher H K Cheng, Wing-Ping Fong
exaly +4 more sources
The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity [PDF]
FEBS Letters, 2008 The crystal structure of seabream antiquitin in complex with the cofactor NAD+ was solved at 2.8 Å resolution. The mouth of the substrate‐binding pocket is guarded by two conserved residues, Glu120 and Arg300. To test the role of these two residues, we have prepared the two mutants E120A and R300A.
Christopher H K Cheng +2 more
exaly +5 more sources
New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency [PDF]
Journal of Inherited Metabolic Disease, 2019 AbstractDeficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6‐dependent epilepsy. Accumulation of the potentially neurotoxic α‐aminoadipic semialdehyde (AASA) may contribute to frequently associated developmental delay. AASA is formed by α‐aminoadipic semialdehyde synthase (AASS) via the saccharopine
Deborah Mathis +2 more
exaly +7 more sources
Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy [PDF]
Annals of Neurology, 2014 ObjectiveA high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by mutations inALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown.
Sidney M Gospe +2 more
exaly +4 more sources
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. +3 more
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