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Mutations in antiquitin in individuals with pyridoxine-dependent seizures


Mills, Philippa B; Struys, Eduard; Jakobs, Cornelis; Plecko, Barbara; Baxter, Peter; Baumgartner, Matthias; et al (2006). Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nature Medicine, 12(3):307-309.

Abstract

We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a Δ1-piperideine-6-carboxylate (P6C)–α-aminoadipic semialdehyde (α-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5′-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary α-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.

Abstract

We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a Δ1-piperideine-6-carboxylate (P6C)–α-aminoadipic semialdehyde (α-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5′-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary α-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > General Biochemistry, Genetics and Molecular Biology
Language:English
Date:2006
Deposited On:04 Feb 2020 14:23
Last Modified:31 Jul 2020 03:45
Publisher:Nature Publishing Group
ISSN:1078-8956
OA Status:Closed
Publisher DOI:https://doi.org/10.1038/nm1366
PubMed ID:16491085

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