Metabolomics Analysis of Antiquitin Deficiency in Cultured Human Cells and Plasma: Relevance to Pyridoxine-Dependent Epilepsy [PDF]
Journal of Inherited Metabolic Disease, 2023 AbstractDeficiency of antiquitin (α‐aminoadipic semialdehyde dehydrogenase), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6‐dependent epilepsy (PDE‐ALDH7A1). Despite seizure control with high dose pyridoxine (PN), developmental delay still occurs in approximately 70% of patients.
Michelle Seiler +2 more
exaly +11 more sources
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 +7 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, Maina P Kava
exaly +6 more sources
Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research [PDF]
Annals of the Child Neurology Society, 2023 Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of pyridoxine.
Curtis R. Coughlin II +1 more
doaj +3 more sources
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation [PDF]
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 +6 more
doaj +3 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 ...
Bernd Jilma +2 more
exaly +8 more sources
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns [PDF]
Frontiers in GeneticsThe first-tier genetic testing for developmental and epileptic encephalopathies (DEE) is now increasingly used in routine clinical practice. Antiquitin deficiency, also referred to as pyridoxine-dependent epilepsy (PDE-ALDH7A1), represents an inherited ...
Patryk Lipiński +8 more
doaj +2 more sources
Folinic Acid Responsive Epilepsy in Ohtahara Syndrome
Pediatric Neurology Briefs, 2014 Investigators at Queen Mary Hospital, Hong Kong, report a case of Ohtahara syndrome with transient folinic acid responsiveness but without evidence of antiquitin dysfunction in a girl later found to have a known STXBP1 mutation.
J Gordon Millichap, John J Millichap
doaj +2 more sources
Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria [PDF]
BMC NeurologyBackground Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the ...
Rida Jaber +5 more
doaj +2 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
doaj +1 more source