Abstract
In patients with fructose-1,6-bisphosphatase (FBPase) deficiency, maternal and fetal neurodevelopmental abnormalities can be induced by severe hypoglycemia and lactic acidosis, which is triggered by pregnancy. The patient was a 24-year-old and primipara. Via pre-pregnancy education and management including self-monitoring of blood glucose and prompt medical intervention with glucose infusions, she never experienced hypoglycemia with impaired consciousness. She delivered a 2,406 g male infant at 38 weeks of gestation by cesarean section. No neurological abnormalities in either the mother or the child appeared during the following 2 years. This is the first report with detailed descriptions of the management of a pregnant woman with FDPase deficiency. This report suggests that for a patient with FBPase deficiency, the maternal and fetal complications can be reduced by pre-pregnancy education and self-monitoring of blood glucose to prevent hypoglycemia.
Competing interests: None declared
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Asberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C (2010) Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. J Inherit Metab Dis 33(Suppl 3):S113–S121
Baker L, Winegrad AI (1970) Fasting hypoglycemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet 2:13–16
Catalano PM, Ishizuka T, Friedman JE (1998) Glucose metabolism in pregnancy. In: Cowett R (ed) Principles of perinatal-neonatal metabolism. Springer, New York, pp 356–389
Douillard C, Mention K, Dobbelaere D, Wemeau JL, Saudubray JM, Vantyghem MC (2012) Hypoglycaemia related to inherited metabolic diseases in adults. Orphanet J Rare Dis 7:26
Hasegawa Y, Kikawa Y, Miyamaoto J et al (2003) Intravenous glycerol therapy should not be used in patients with unrecognized fructose-1,6-bisphosphatase deficiency. Pediatr Int 45:5–9
Hashimoto Y, Watanabe H, Satou M (1978) Anesthetic management of a patient with hereditary fructose-1,6-diphosphatase deficiency. Anesth Analg 57:503–506
Kikawa Y, Shin YS, Inuzuka M, Zammarchi E, Mayumi M (2002) Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. J Inherit Metab Dis 25:41–46
Krishnamurthy V, Eschrich K, Boney A et al (2007) Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. J Inherit Metab Dis 30:819
Langer O, Rodriguez DA, Xenakis EM, McFarland MB, Berkus MD, Arrendondo F (1994) Intensified versus conventional management of gestational diabetes. Am J Obstet Gynecol 170:1036–1046
Pugh SK, Doherty DA, Magann EF, Chauhan SP, Hill JB, Morrison JC (2009) Does hypoglycemia following a glucose challenge test identify a high risk pregnancy? Reprod Health 6:10
Vadakekut ES, McCoy SJ, Payton ME (2011) Association of maternal hypoglycemia with low birth weight and low placental weight: a retrospective investigation. J Am Osteopath Assoc 111:148–152
Acknowledgments
The authors thank their patient for permission to report her case.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Alberto B Burlina, MD
Appendices
Synopsis
For a patient with fructose-1,6-bisphosphatase deficiency, the maternal and fetal complications can be reduced by pre-pregnancy education and self-monitoring of blood glucose to prevent hypoglycemia.
Conflict of Interest
Genki Sugita, Hideaki Tsuyoshi, Koji Nishijima, and Yoshio Yoshida declare that they have no conflict of interest.
Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
Animal Rights
This report does not contain any studies with animal subjects performed by any of the authors.
Details of the Contributions of Individual Authors
I acknowledge that all authors have contributed significantly to the planning, conduct, and reporting of the manuscript, and that all authors are in agreement with the content of the manuscript. The guarantor for this report is the corresponding author, Hideaki Tsuyoshi, M.D.
Rights and permissions
Copyright information
© 2014 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Sugita, G., Tsuyoshi, H., Nishijima, K., Yoshida, Y. (2014). Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 14. JIMD Reports, vol 14. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_290
Download citation
DOI: https://doi.org/10.1007/8904_2013_290
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-43747-6
Online ISBN: 978-3-662-43748-3
eBook Packages: MedicineMedicine (R0)