Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy [PDF]
Journal of Inherited Metabolic Disease, 2022 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.
Crowther, Lisa M +7 more
wiley +9 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
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency [PDF]
Human Molecular Genetics, 2020 AbstractPyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the ALDH7A1 gene leading to blockade of the lysine catabolism pathway. PDE is characterized by recurrent seizures that are resistant to conventional anticonvulsant treatment but are well-controlled by pyridoxine (PN).
Al-Shekaili, Hilal H. +14 more
core +7 more sources
A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF [PDF]
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ +8 more
wiley +2 more sources
Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders [PDF]
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens +4 more
wiley +2 more sources
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders [PDF]
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +2 more sources
Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency [PDF]
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Pyridoxine‐dependent epilepsy (PDE) is a rare, autosomal recessive neurometabolic disorder characterized by intractable seizures responsive to pyridoxine. We present the case of an 11‐day‐old female neonate with a history of refractory multifocal seizures beginning on day three of life, accompanied by hepatomegaly, metabolic acidosis, elevated
Maryam Saeedi +3 more
wiley +2 more sources
Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature [PDF]
Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +2 more sources
An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1) [PDF]
Annals of Neurology, 2007 AbstractRecently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal‐onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but ...
Salomons, G.S. +8 more
openaire +5 more sources