Pyridoxine dependent epilepsy and antiquitin deficiency
نویسندگان
چکیده
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Sylvia Stockler ⁎, Barbara Plecko , Sidney M. Gospe Jr. , Marion Coulter-Mackie , Mary Connolly , Clara van Karnebeek , Saadet Mercimek-Mahmutoglu , Hans Hartmann , Gunter Scharer , Eduard Struijs , Ingrid Tein , Cornelis Jakobs , Peter Clayton , Johan L.K. Van Hove e
منابع مشابه
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnos...
متن کاملPyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
BACKGROUND Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure control, 75% of patients suffer intellectual developmental disability. Antiquitin deficiency affects lysine catabolism resulting in accumulation of α-aminoadipic semialdehyde/pyrroline 6' carboxylate and pipecolic acid. Beside ne...
متن کاملPyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
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 in molybdenum cofactor and sulfite oxidase deficiencies. The seizures in pyridoxine-dependent epilepsy are cause...
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In some patients without vitamin B6 deficiency, epilepsy can not be controlled without an extra supplement of vitamin B6. The therapeutic role of pyridoxal phosphate (PLP), the active form of vitamin B6, may not be replaced with other forms of vitamin B6 sometimes. Until now, four inborn errors of metabolism are known to affect vitamin B6 concentrations in the brain. Three of them are hyperprol...
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The treatment of neonatal seizures generally relies on the use of one or more anticonvulsant medications along with evaluation and management of any underlying etiology. In some circumstances, neonatal seizures are refractory to therapy and result in poor outcomes, including death. Certain rare vitamin- responsive inborn errors of metabolism may present as neonatal encephalopathy with anticonvu...
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