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Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

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Book cover JIMD Reports, Volume 41

Part of the book series: JIMD Reports ((JIMD,volume 41))

Abstract

Glutaric aciduria type 1 (GA1) is an autosomal recessive rare disorder caused by mutations in the GCDH gene resulting in deficiency of glutaryl-CoA dehydrogenase, leading to accumulation of the amino acids lysine, hydroxylysine and tryptophan and other metabolites. The phenotypic spectrum of disease is broad. Stress caused by infection and fever and possibly pregnancy may lead to worsening of the signs and symptoms, often with uncertain recovery.

We describe a case of a female patient with GA1 who had two clinically uneventful pregnancies.

At the age of 11 she was diagnosed with GA1 by family screening. The cultured skin fibroblast showed reduced glutaryl-CoA dehydrogenase activity (0.16 mg protein per min).

The initial diagnostic urine glutaric acid level for this patient was 1,784 μmol/mmol creatinine. Mutation analysis showed compound heterozygosity for the p.(Gly185Arg), c.553G>A in exon 7 and p.(Arg402Trp), c.1204C.T in exon 11 mutations of the GCDH.

Her pregnancy at the age of 23 was complicated by pre-eclampsia and required treatment with beta-blockers. Four years later the second pregnancy was uncomplicated. The management plan during the caesarean section included intravenous dextrose and lipid infusions. The patient rapidly recovered from both surgeries.

Both babies have had normal development to date. On newborn screening, plasma acylcarnitine showed a transient increase in glutarylcarnitine, and the urine organic acid analysis showed a trace of 3-hydroxyglutarylcarnitine, likely to be of maternal transfer.

The multidisciplinary team, consisting of metabolic, dietetic and obstetric care providers, have responsibility to ensure the risk of acute decompensation in pregnant GA1 women is minimal.

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Abbreviations

GA1:

Glutaric aciduria type 1

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Author information

Authors and Affiliations

  1. National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Dublin, Ireland

    Karolina M. Stepien, Gregory M. Pastores, Una Hendroff & Eileen P. Treacy

  2. University College Dublin, Dublin, Ireland

    Gregory M. Pastores & Eileen P. Treacy

  3. Obstetrics and Gynaecology Department, Portiuncula University Hospital, Ballinasloe, County Galway, Ireland

    Ciara McCormick & Naveed Khawaja

  4. Metabolic Laboratory, Department of Biochemistry, Temple Street Children’s University Hospital, Dublin, Ireland

    Patricia Fitzimons & Ingrid Borovickova

Authors
  1. Karolina M. Stepien
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  2. Gregory M. Pastores
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  3. Una Hendroff
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  4. Ciara McCormick
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  5. Patricia Fitzimons
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  6. Naveed Khawaja
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  7. Ingrid Borovickova
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  8. Eileen P. Treacy
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Corresponding author

Correspondence to Karolina M. Stepien .

Editor information

Editors and Affiliations

  1. Tulane University Medical School, New Orleans, LA, USA

    Eva Morava

  2. Division of Metabolism & Children’s Research Centre, University Children’s Hospital Zürich, Zürich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Jean-Marie Saudubray

Appendices

Synopsis

Uneventful pregnancies in a patient affected with glutaric aciduria type 1.

General Rules

Details of the Contributions of Individual Authors

KMS, GP, ET conception and design, analysis and interpretation of data, drafting the chapter, revising the chapter critically for important intellectual content.

PF and IB data interpretation.

CMcC and NK data interpretation and revising the chapter critically for intellectual content.

All authors read and approved the manuscript before submission.

The Name of the Corresponding Author

Dr. Karolina M Stepien.

National Centre for Inherited Metabolic Diseases.

The Mater Misericordiae University Hospital.

Eccles Street.

Dublin, Ireland.

Tel: 0353 1 8607065.

kstepien@doctors.org.uk.

A Competing Interest Statement

KS, GP, UH, CM, PF, NK, IB and ET have no conflict of interest for this publication.

Details of Funding

N/A.

Details of Ethics Approval

N/A.

A Patient Consent Statement

Patient’s consent was obtained.

Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals (or Comparable Committee)

N/A.

Guarantor

ET.

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© 2018 Society for the Study of Inborn Errors of Metabolism (SSIEM)

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Stepien, K.M. et al. (2018). Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 41. JIMD Reports, vol 41. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_81

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  • DOI: https://doi.org/10.1007/8904_2017_81

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58080-6

  • Online ISBN: 978-3-662-58081-3

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