Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 151–157

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries

  • Aditi I. Dagli
  • Philip J. Lee
  • Catherine E. Correia
  • Christina Rodriguez
  • Kaustav Bhattacharya
  • Linda Steinkrauss
  • Charles A. Stanley
  • David A. Weinstein
Case Report

DOI: 10.1007/s10545-010-9054-1

Cite this article as:
Dagli, A.I., Lee, P.J., Correia, C.E. et al. J Inherit Metab Dis (2010) 33(Suppl 3): 151. doi:10.1007/s10545-010-9054-1
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Abstract

Patients with type Ia glycogen storage disease (GSD) have been surviving well into adulthood since continuous glucose therapy was introduced in the 1970s, and there have been many documented successful pregnancies in women with this condition. Historically, few individuals with type Ib GSD, however, survived into adulthood prior to the introduction of granulocyte colony stimulating factor (G-CSF) in the late 1980s. There are no previously published reports of pregnancies in GSD type Ib. In this case report we describe the course and management of five successful pregnancies in three patients with GSD type Ib. Patient 1 experienced an increase in glucose requirement in all three of her pregnancies, starting from the second trimester onwards. There were no major complications related to neutropenia except for oral ulcers. The infants did well, except for respiratory distress in two of them at birth. Patient 2 used cornstarch to maintain euglycemia, but precise dosing was not part of her regimen, and, hence, an increase in metabolic demands was difficult to demonstrate. She developed a renal calculus and urinary tract infection during her pregnancy and had chronic iron deficiency anemia but no neutropenia. The neonate did well after delivery. Patient 3 had poor follow-up during pregnancy. Increasing glucose requirements, worsening lipid profile, neutropenia associated with multiple infections, and anemia were noted. The newborn infant did well after delivery. In addition to the case reports, the challenges of the usage of G-CSF, the treatment of enterocolitis, and comparisons with the management of GSD Ia are discussed.

Abbreviations

GSD

glycogen storage disease

G6Pase

glucose 6-phosphatase

G6P

glucose 6-phosphate

G-CSF

granulocyte colony stimulating factor

CPAP

continuous positive airway pressure

D10

10% dextrose

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Aditi I. Dagli
    • 1
  • Philip J. Lee
    • 2
  • Catherine E. Correia
    • 1
  • Christina Rodriguez
    • 1
  • Kaustav Bhattacharya
    • 2
  • Linda Steinkrauss
    • 3
  • Charles A. Stanley
    • 3
  • David A. Weinstein
    • 1
  1. 1.Glycogen Storage Disease Program and Division of Pediatric EndocrinologyUniversity of Florida College of MedicineGainesvilleUSA
  2. 2.Charles Dent Metabolic UnitThe National Hospital for Neurology & NeurosurgeryLondonUK
  3. 3.Division of EndocrinologyChildren’s Hospital of PhiladelphiaPhiladelphiaUSA

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