First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]
Vojnosanitetski Pregled, 2017 Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M. +3 more
doaj +1 more source
Structural and kinetic studies of human aldh7a1 and aldh9a1 [PDF]
, 2021 The regulation and detoxification of endogenously and exogenously derived aldehydes is paramount to cellular survival due to the highly reactive nature of aldehydes as electrophiles. Human aldehyde dehydrogenases (ALDHs) are a superfamily of oxidoreductase enzymes that have critical roles in this regulation and detoxification.
openaire +2 more sources
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination [PDF]
, 2015 OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1.
Mills, Philippa B +9 more
core +1 more source
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 +5 more
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, 2021 Vitamin B6 vitamers levels are reduced in aldh7a1 homozygous knock-out embryos relative to the wildtype. It is shown in a scatterplot of quantification of the levels of vitamin B6 vitamers in aldh7a1 homozygous knock-out zebrafish relative to the ...
Anastasia Minenkova (11408438) +7 more
core +1 more source
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse
Theranostics, 2021 Rationale: The activity of aldehyde dehydrogenase 7A1 (ALDH7A1), an enzyme that catalyzes the lipid peroxidation of fatty aldehydes was found to be upregulated in pancreatic ductal adenocarcinoma (PDAC). ALDH7A1 knockdown significantly reduced tumor formation in PDAC. We raised a question how ALDH7A1 contributes to cancer progression.
Lee, Jae-Seon +11 more
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The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 [PDF]
Journal of Inherited Metabolic Disease, 2010 AbstractPyridoxine‐dependent epilepsy is a disorder associated with severe seizures that may be caused by deficient activity of α‐aminoadipic semialdehyde dehydrogenase, encoded by the ALDH7A1 gene, with accumulation of α‐aminoadipic semialdehyde and piperideine‐6‐carboxylic acid.
Gunter, Scharer +6 more
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Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect. [PDF]
Mol Genet Metab RepPyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to pyridoxine. Other manifestations include perinatal asphyxia, hypoglycemia, and neuroimaging abnormalities.
Bottino M +4 more
europepmc +3 more sources
GABA pathway metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
, 2021 GABA pathway metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
Anastasia Minenkova (11408438) +7 more
core +1 more source
TCA cycle metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
, 2021 TCA cycle metabolites of Patient 2 and Patient 3 with PDE-ALDH7A1.
Anastasia Minenkova (11408438) +7 more
core +1 more source