---
pmid: '16491085'
title: Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
authors:
- Mills PB
- Struys E
- Jakobs C
- Plecko B
- Baxter P
- Baumgartner M
- Willemsen MA
- Omran H
- Tacke U
- Uhlenberg B
- Weschke B
- Clayton PT
journal: Nat Med
year: '2006'
full_text_available: false
doi: 10.1038/nm1366
pubmed_publication_types:
- Journal Article
- Research Support, Non-U.S. Gov't
publication_type: PRIMARY_RESEARCH
---

# Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
**Authors:** Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT
**Journal:** Nat Med (2006)
**DOI:** [10.1038/nm1366](https://doi.org/10.1038/nm1366)

## Abstract

1. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19.

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Mills PB(1), Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen 
MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT.

Author information:
(1)Institute of Child Health, University College London with Great Ormond Street 
Hospital for Children National Health Service Trust, 30 Guilford Street, London, 
UK.

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 delta1-piperideine-6-carboxylate 
(P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase. The 
accumulating P6C inactivates pyridoxal 5'-phosphate (PLP) by forming a 
Knoevenagel condensation product. Measurement of urinary alpha-AASA provides a 
simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides 
a means for prenatal diagnosis.

DOI: 10.1038/nm1366
PMID: 16491085 [Indexed for MEDLINE]