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Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy

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JIMD Reports - Volume 10

Part of the book series: JIMD Reports ((JIMD,volume 10))

Abstract

Autosomal recessive disorders affecting pyridoxine (vitamin B6) metabolism are a rare but well-recognized cause of neonatal seizures. Antiquitin deficiency, caused by mutations in ALDH7A1, is a disorder of the lysine degradation pathway causing accumulation of an intermediate that complexes with pyridoxal phosphate. Reports of long-term follow-up of neonatal pyridoxine-dependent seizures (PDS) remain scarce and prognostic information is varied. We report a case of PDS in a 47-year-old lady who originally presented shortly after birth in 1964. Pyridoxine replacement was successful and diagnostic confirmation was obtained later in life, initially by biochemical analysis of serum pipecolic acid. Subsequently we organized genetic analysis of ALDH7A1, which revealed compound heterozygous mutations. To our knowledge, this represents the longest duration of follow-up published to date.

Competing interests: None declared

Authors Markus Niemann and Arndt Rolfs contributed equally

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Author information

Authors and Affiliations

  1. Dept of Neurology, Derriford Hospital, Plymouth, UK

    Malcolm Proudfoot & Agne Straukiene

  2. Dept of Neurology, Bristol Royal Hospital for Children, Bristol, UK

    Philip Jardine & Stuart Weatherby

  3. Dept of Clinical Neuropsychology, Derriford Hospital, Plymouth, UK

    Rupert Noad

  4. Dept of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK

    Andrew Parrish & Sian Ellard

Authors
  1. Malcolm Proudfoot
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  2. Philip Jardine
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  3. Agne Straukiene
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  4. Rupert Noad
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  5. Andrew Parrish
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  6. Sian Ellard
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  7. Stuart Weatherby
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Corresponding author

Correspondence to Malcolm Proudfoot .

Editor information

Editors and Affiliations

  1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Schöpfstr. 41, Innsbruck, A-6020, Austria

    Johannes Zschocke

  2. Washington State University, Clinical Pharmacology Unit, Division of Health Sciences, E. Spokane Falls Blvd. 412, Spokane, 99210-1495, Washington, USA

    K Michael Gibson

  3. , Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom

    Garry Brown

  4. Medical Center, Department of Pediatrics, Radboud University Nijmegen, Geert Grooteplein 9, Nijmegen, 6500 HB, Netherlands

    Eva Morava

  5. Heidelberg University Hospital, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Verena Peters

Additional information

Supplementary Information

Mutation numbering has been updated to reflect the mitochondrial leader sequence. The missense mutation p.E427Q (RefSeq NM_001182.3) is the same mutation previously reported as E399Q (NM_001182.2) and the cryptic splicing mutation c.834G>A (NM_001182.3) was previously reported as c.750G>A (NM_001182.2). We initially failed to identify this as pathogenic in part due to this nomenclature change and also since only one of the four splicing prediction tools within Alamut ( www.interactive-biosoftware.com ) predicted an effect.

Communicated by: Cornelis Jakobs

Synopsis

Synopsis

This report demonstrates an instance of long-term successful treatment of pyridoxine-dependent seizures, which was achieved without serious adverse effects.

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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Proudfoot, M. et al. (2012). Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 10. JIMD Reports, vol 10. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_210

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  • DOI: https://doi.org/10.1007/8904_2012_210

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-37333-6

  • Online ISBN: 978-3-642-37334-3

  • eBook Packages: MedicineMedicine (R0)

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