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Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

  • Karolina M. StepienEmail author
  • Gregory M. Pastores
  • Una Hendroff
  • Ciara McCormick
  • Patricia Fitzimons
  • Naveed Khawaja
  • Ingrid Borovickova
  • Eileen P. Treacy
Research Report
Part of the JIMD Reports book series (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.

Keywords

Glutaric aciduria type 1 Maternal transfer Pregnancy 

Abbreviation

GA1

Glutaric aciduria type 1

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Copyright information

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

Authors and Affiliations

  • Karolina M. Stepien
    • 1
    Email author
  • Gregory M. Pastores
    • 1
    • 2
  • Una Hendroff
    • 1
  • Ciara McCormick
    • 3
  • Patricia Fitzimons
    • 4
  • Naveed Khawaja
    • 3
  • Ingrid Borovickova
    • 4
  • Eileen P. Treacy
    • 1
    • 2
  1. 1.National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University HospitalDublinIreland
  2. 2.University College DublinDublinIreland
  3. 3.Obstetrics and Gynaecology DepartmentPortiuncula University Hospital, BallinasloeCounty GalwayIreland
  4. 4.Metabolic Laboratory, Department of BiochemistryTemple Street Children’s University HospitalDublinIreland

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