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Multidisciplinary management of pregnancy and labour in a patient with glycogen storage disease type 1a
  1. Alice May Jones1,
  2. Clare Tower2,3,
  3. Diane Green4 and
  4. Karolina M Stepien5,6
  1. 1Tameside Hospital NHS Foundation Trust, Ashton-under-Lyne, UK
  2. 2Manchester University NHS Foundation Trust, Manchester, UK
  3. 3Manchester Academic Health Science Centre, Manchester, UK
  4. 4Salford Royal NHS Foundation Trust, Salford, Greater Manchester, UK
  5. 5Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust, Salford, Greater Manchester, UK
  6. 6Division of Diabetes, Endocrinology and Gastroenterology, The University of Manchester, Manchester, UK
  1. Correspondence to Dr Alice May Jones; alice.jones{at}tgh.nhs.uk

Abstract

Glycogen storage disease type 1a (GSD 1a) is a metabolic disorder caused by deficiency of an enzyme required for glycogen breakdown, causing hypoglycaemia and lactic acidosis. Metabolic derangements cause disease manifestations affecting the kidneys, liver and platelet function. Physiological changes in pregnancy worsen fasting intolerance and increase reliance on exogenous glucose to avoid lactic acidosis. Fetal macrosomia and declining respiratory function result in high rates of caesarean sections. We report the multidisciplinary team (MDT) management of a 25-year-old woman with GSD 1a in an unplanned pregnancy. Existing percutaneous endoscopic gastrostomy tube feeding, alongside high-calorie drinks and intravenous dextrose during labour, managed the risks of hypoglycaemia and lactic acidosis. Metabolic parameters were regularly monitored and fortnightly growth scans were assessed for macrosomia. Allopurinol was continued throughout the pregnancy to reduce the risk of hyperuricaemia. MDT management optimised maternal and fetal care throughout pregnancy and labour, resulting in a successful vaginal delivery.

  • obstetrics
  • gynaecology and fertility
  • metabolic disorders
  • pregnancy
  • materno-fetal medicine

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Footnotes

  • Contributors AMJ, CT and KMS originally conceived of the idea. AMJ and DG helped with data capture. AMJ worked on design and drafting of the manuscript. KMS, DG and CT were involved in clinical management throughout the pregnancy. All authors were involved in the design and review of the manuscript as well as revising the manuscript critically for important intellectual content.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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