Results 21 to 30 of about 1,834 (152)

The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma

Tumor Biology, 2014
Although the entire etiology of esophageal squamous cell carcinoma (ESCC) is still unclear, alcohol drinking has been identified as a major environmental risk factor. The aldehyde dehydrogenase (ALDH) superfamily members are major enzymes involved in the alcohol-metabolizing pathways.
Qipeng Yuan, Ming Yang, Wenting Pan
exaly   +3 more sources

Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. [PDF]

PLoS ONE, 2014
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease.
Zhixian Yang, Xiaoling Yang, Ye Wu, Jingmin Wang, Yuehua Zhang, Hui Xiong, Yuwu Jiang, Jiong Qin   +7 more
doaj   +4 more sources

Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study

Frontiers in Neurology
PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Eylert Brodtkorb, Trond Sand, Trine Tangeraas   +2 more
exaly   +3 more sources

Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study [PDF]

Frontiers in Neurology
ObjectiveTo summarize the clinical features and the spectrum of ALDH7A1 gene variants in Chinese children with pyridoxine-dependent epilepsy (PDE).MethodsClinical data were collected from six pediatric patients with PDE treated at Linyi People’s Hospital
Xixi Yu, Xin Zhang, Shiyan Qiu, Li Yang, Xin Li, Dongyu Shi   +5 more
doaj   +2 more sources

Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency

Journal of Inherited Metabolic Disease
AbstractALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α‐Aminoadipic semialdehyde (α‐AASA) and Δ1‐piperideine‐6‐carboxylate (P6C), which accumulate because of the block in ...
Youssef Khalil, Philippa Mills
exaly   +4 more sources

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1 [PDF]

Seizure: the Journal of the British Epilepsy Association, 2018
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life.
Eliane Chouery, André Mégarbane
exaly   +3 more sources

Restricting lysine normalizes toxic catabolites associated with ALDH7A1 deficiency in cells and mice

Cell Reports
Lysine metabolism converges at α-aminoadipic semialdehyde dehydrogenase (ALDH7A1). Rare loss-of-function mutations in ALDH7A1 cause a toxic accumulation of lysine catabolites, including piperideine-6-carboxylate (P6C), that are thought to cause fatal seizures in children unless strictly managed with dietary lysine reduction.
Seth Parker
exaly   +3 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

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria [PDF]

BMC Neurology
Background 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, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar   +5 more
doaj   +2 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