Results 51 to 60 of about 3,184 (187)

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

Molecular and Cellular Probes, 2017
Pyridoxine dependent epilepsy (PDE) (OMIM#266100) is a neonatal form of epilepsy, caused by dysfunction of the enzyme α-aminoadipic semialdehyde dehydrogenase (ALDH7A1 or Antiquitin). This enzyme converts α-aminoadipic semialdehyde (α-AASA) into α-aminoadipate (AAA), a critical step in the lysine metabolism of the brain.
Emanuele G, Coci, Luca, Codutti, Christian, Fink, Sophie, Bartsch, Gunnar, Grüning, Thomas, Lücke, Ingo, Kurth, Joachim, Riedel   +7 more
openaire   +2 more sources

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Case Reports in Genetics, 2022
Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALDH7A1.
Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon   +4 more
doaj   +1 more source

Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients [PDF]

Epilepsia, 2009
SummaryPurpose:  Pyridoxine‐dependent seizure (PDS) is a rare disorder characterized by seizures that are resistant to common anticonvulsants, and that are ultimately controlled by daily pharmacologic doses of pyridoxine (vitamin B6). Mutations of the antiquitin gene (ALDH7A1) are now recognized as the molecular basis of cases of neonatal‐onset PDS ...
Bennett, Craig L., Chen, Yingzhang, Hahn, Sihoun, Glass, Ian A., Gospe Jr, Sidney M.   +4 more
openaire   +3 more sources

The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia

The Turkish Journal of Pediatrics, 2019
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near normal psychomotor development. It is caused by mutations in the Antiquitin (ALDH7A1) gene.
Hande Gazeteci-Tekin, Melis Demir, Gül Aktan, Hasan Tekgül, Sarenur Gökben   +4 more
doaj   +1 more source

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy

Frontiers in Neuroscience, 2023
IntroductionGenetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects.
Bin Mao, Bin Mao, Na Lin, Na Lin, Danhua Guo, Danhua Guo, Deqin He, Deqin He, Huili Xue, Huili Xue, Lingji Chen, Lingji Chen, Qianqian He, Qianqian He, Min Zhang, Min Zhang, Meihuan Chen, Meihuan Chen, Hailong Huang, Hailong Huang, Liangpu Xu, Liangpu Xu   +21 more
doaj   +1 more source

Metabolite biomarker discovery for metabolic diseases by flux analysis [PDF]

, 2012
Metabolites can serve as biomarkers and their identification has significant importance in the study of biochemical reaction and signalling networks.
Ching, WK, Jiang, H, Li, L, Vassiliadis, VS   +3 more
core   +1 more source

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

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., Bok, L.A., Struys, E.A., Pope, L.L., Darmin, P.S., Mills, P.B., Clayton, P.T., Willemsen, M.A.A.P., Jakobs, C.   +8 more
openaire   +4 more sources

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutation

, 2023
Abstract Background Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease, usually associated with neonatal seizures, about 75% of the patients suffered from intellectual or developmental delay (IDD). Antiepileptic drugs are often difficult to control seizures or incomplete control, but pyridoxine administration can ...
Feifei Luo, Ying Ruan, LiJun Du, Li Jiang, Ying Xiong, Hanmin Liu   +5 more
openaire   +1 more source

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) [PDF]

, 2017
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system ...
Antonarakis, Stylianos E., Atzori, Cristiana, Brusco, Alfredo, Brussino, Alessandro, Canale, Claudio, Di Gregorio, Eleonora, Ferrera, Denise, Ferrero, Enza, Gasparini, Laura, Giorgio, Elisa, Guipponi, Michel, Imperiale, Daniele, Pennacchio, Len A., Robyr, Daniel, Santoni, Federico, Spielmann, Malte, Stamoulis, Georgios, Vaula, Giovanna   +17 more
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