Results 31 to 40 of about 2,219 (171)

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect

Molecular Genetics and Metabolism Reports, 2014
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA).
Saadet Mercimek-Mahmutoglu, Dawn Corderio, Laura Nagy, Carly Mutch, Melissa Carter, Eduard Struys, Lianna Kyriakopoulou   +6 more
doaj   +2 more sources

Refractory Seizures in a Neonate with a Rare Coexistence of Variants in Both ALDH7A1 and RHOBTB2 Genes

Indian Pediatrics Case Reports
Background: Pyridoxine-dependent epilepsy due to ALDH7A1 gene mutation is a known, but rare autosomal recessive disorder, presenting with early-onset, refractory seizures.
Kavya Rajanna, Mohit Ajmera, Swati Mehta, J. Suraj Kumar   +3 more
doaj   +2 more sources

Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures [PDF]

Arquivos de Neuro-Psiquiatria, 2008
in this gene have been shown to be present in the majority of patients with a clinical diagnosis of pyridoxinedependent seizures 3-6 . These mutations cause a deficien cy in α-aminoadipic semialdehyde (α-AASA) dehydrogenase, indirectly leading to a secondary deficiency in pyri doxal-5-phosphate (P5P), which causes seizures. Administration of pyridoxine
Jasper V. Been, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs   +4 more
doaj   +7 more sources

Neonatal Refractory Seizures and Hyperammonemia in a Neonate With ALDH7A1 Deficiency. [PDF]

Clin Case Rep
ABSTRACTPyridoxine‐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 ...
Saeedi M, Mirnia K, Sedighzadeh S, Sangsari R.   +3 more
europepmc   +4 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations [PDF]

Oxford Medical Case Reports, 2020
Abstract Pyridoxine-dependent epilepsy (PDE) is a rare autosomal-recessive disorder typically presenting with neonatal seizures and is sometimes difficult to diagnose, because the clinical features mimic those of birth asphyxia. A Japanese newborn boy presented with pulmonary haemorrhage and convulsions on the day of birth.
Dowa, Yuri, Shiihara, Takashi, Akiyama, Tomoyuki, Hasegawa, Kosei, Inoue, Fumitaka, Watanabe, Mio   +5 more
openaire   +2 more sources

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

PLoS ONE, 2021
BackgroundPyridoxine-dependent epilepsy (PDE) is due to biallelic variants in ALDH7A1 (PDE-ALDH7A1). ALDH7A1 encodes α-aminoadipic semialdehyde dehydrogenase in lysine catabolism.
Anastasia Minenkova, Erwin E W Jansen, Jessie Cameron, Rob Barto, Thomas Hurd, Lauren MacNeil, Gajja S Salomons, Saadet Mercimek-Andrews   +7 more
doaj   +1 more source

The impact of ALDH7A1 variants in oral cancer development and prognosis

Aging, 2022
The gene encoding aldehyde dehydrogenase 7 family member A1 (ALDH7A1) has been associated with the development and prognosis in multiple cancers; however, the role of ALDH7A1 polymorphisms in oral cancer remains unknown. For this purpose, the influences of ALDH7A1 rs13182402 and rs12659017 on oral cancer development and prognosis were analyzed.
Lu, Hsueh-Ju, Chuang, Chun-Yi, Chen, Mu-Kuan, Su, Chun-Wen, Yang, Wei-En, Yeh, Chia-Ming, Lai, Kuan-Ming, Tang, Chih-Hsin, Lin, Chiao-Wen, Yang, Shun-Fa   +9 more
openaire   +2 more sources

Pyridoxine‐dependent epilepsy: Current perspectives and questions for future research

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, Sidney M. Gospe  Jr.   +1 more
doaj   +1 more source

Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency [PDF]

, 2022
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE-ALDH7A1), which mainly has its onset in neonates and infants.
Hans-Otto Böhm, Kristensen, Erle, Østeby Vassli, Anja, Böhm, Hans-Otto, Rootwelt, Helge, Mazyar Yazdani, Hanne Bendiksen Skogvold, Helge Rootwelt, Brodtkorb, Eylert, Elgstøen, Katja Benedikte Prestø, Mørk Sandås, Elise, Skogvold, Hanne Bendiksen, Elise Mørk Sandås, Sandås, Elise Mørk, Elgstøen, Katja B. Prestø, Eylert Brodtkorb, Anja Østeby Vassli, Katja Benedikte Prestø Elgstøen, Yazdani, Mazyar, Erle Kristensen   +19 more
core   +1 more source

Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma

BMC Cancer, 2018
Background Changes in cellular metabolism are now recognized as potential drivers of cancer development, rather than as secondary consequences of disease.
Diana Andrejeva, Jan-Michael Kugler, Hung Thanh Nguyen, Anders Malmendal, Mette Lind Holm, Birgitte Groenkaer Toft, Anand C. Loya, Stephen M. Cohen   +7 more
doaj   +1 more source