Dec 7, 2001 · Pyridoxine-dependent epilepsy – ALDH7A1 (PDE- ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B 6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE- ALDH7A1.

"Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress".

Dec 24, 2024 · ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH7A1 include Epilepsy, Early-Onset, 4, Vitamin B6-Dependent and Hydrocephalus, Congenital, 1. Among its related pathways are superpathway of choline degradation to L-serine and L-lysine degradation XI (mammalian).

These genes provide instructions for producing enzymes that alter molecules called aldehydes. The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. Within the cell, antiquitin is found in the internal fluid of the cell (cytosol) and in the nucleus.

Oct 24, 2023 · HGNC Approved Gene Symbol: ALDH7A1. Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38) : 5:126,541,841-126,595,219 (from NCBI) The ALDH7A1 gene encodes an aldehyde dehydrogenase. Mills et al. (2006) determined that the protein is an alpha-aminoadipic semialdehyde dehydrogenase in the pipecolic acid pathway of lysine catabolism.

Apr 5, 2024 · In this study, we show that ALDH7A1-deficient mice with seizure control exhibit altered adult hippocampal neurogenesis and impaired cognitive functions.

Dec 23, 2024 · Our results indicated that ALDH7A1, a newly discovered MDG in LUSC, could act as an independent prognostic factor for OS in LUSC, with the potential to become a potential target for LUSC diagnosis and treatment. High expression of ALDH7A1 in LUSC could promote the occurrence and development of tumor …

Mar 24, 2014 · ALDH7A1 genetic defect results in alpha-amino adipic acid semialdehyde dehydrogenase enzyme (E.C. 1.2.1.31) deficiency in the lysine catabolic pathway, which further leads to the accumulation of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and …

May 3, 2022 · PDE results from a deficiency in antiquitin, encoded by ALDH7A-1. PDE classically presents in the neonatal period with refractory seizures that robustly respond to pyridoxine supplementation. Epileptic spasms (including IS) are uncommon, reported in less than 20% of children with PDE.

Sep 3, 2023 · Genetic changes in the ALDH7A1 gene can result in a condition called pyridoxine-dependent epilepsy. This condition is characterized by recurrent seizures that typically begin in infancy.