Skip to main content
Journal cover image

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.

Publication ,  Journal Article
Krishnamurthy, V; Eschrich, K; Boney, A; Sullivan, J; McDonald, M; Kishnani, PS; Koeberl, DD
Published in: J Inherit Metab Dis
October 2007

Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause of life-threatening hypoglycaemia and lactic acidaemia following prolonged fasting. The patient, an adult African-American woman, presented during the second trimester of her first pregnancy with recurrent episodes of lactic acidaemia and hypoglycaemia. She had recently been admitted to a nearby intensive care unit after presentation with profound hypoglycaemia and lactic acidosis, and was found to be pregnant. The history was remarkable for approximately 30 hospitalizations for hypoglycaemia and acidosis. She had previously undergone liver biopsy at another centre and was diagnosed with a 'glycogen storage disease', although no enzyme testing had been done for confirmation. Based on clinical symptoms, a diagnosis of FBPase deficiency was accomplished through gene sequencing, which revealed homozygosity for a panethnic, common mutation, 960/961insG in exon 7. The availability of mutation testing facilitated the confirmation of FBPase deficiency in this patient, obviating liver biopsy for enzyme activity confirmation. The patient underwent three successful pregnancies by strict compliance with dietary management, including nocturnal uncooked cornstarch to manage hypoglycaemia. The pregnancies were complicated by mild gestational diabetes, increased cornstarch requirements, and hypoglycaemia at the time of discharge from the hospital. The three infants had normal birth weights and experienced no complications during the neonatal period. The patient subsequently developed sensorineural hearing loss and early-onset cognitive impairment, despite compliance with the monitoring and treatment of hypoglycaemia. The experience with multiple pregnancies in this FBPase-deficient patient provides insight into the management of hypoglycaemia in inherited disorders of gluconeogenesis.

Duke Scholars

Published In

J Inherit Metab Dis

DOI

EISSN

1573-2665

Publication Date

October 2007

Volume

30

Issue

5

Start / End Page

819

Location

United States

Related Subject Headings

  • Pregnancy Complications
  • Pregnancy
  • Mutation
  • Live Birth
  • Humans
  • Gravidity
  • Genetics & Heredity
  • Genetic Testing
  • Fructose-Bisphosphatase
  • Fructose-1,6-Diphosphatase Deficiency
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Krishnamurthy, V., Eschrich, K., Boney, A., Sullivan, J., McDonald, M., Kishnani, P. S., & Koeberl, D. D. (2007). Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. J Inherit Metab Dis, 30(5), 819. https://doi.org/10.1007/s10545-007-0606-y
Krishnamurthy, V., K. Eschrich, A. Boney, J. Sullivan, M. McDonald, P. S. Kishnani, and D. D. Koeberl. “Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.J Inherit Metab Dis 30, no. 5 (October 2007): 819. https://doi.org/10.1007/s10545-007-0606-y.
Krishnamurthy V, Eschrich K, Boney A, Sullivan J, McDonald M, Kishnani PS, et al. Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. J Inherit Metab Dis. 2007 Oct;30(5):819.
Krishnamurthy, V., et al. “Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.J Inherit Metab Dis, vol. 30, no. 5, Oct. 2007, p. 819. Pubmed, doi:10.1007/s10545-007-0606-y.
Krishnamurthy V, Eschrich K, Boney A, Sullivan J, McDonald M, Kishnani PS, Koeberl DD. Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. J Inherit Metab Dis. 2007 Oct;30(5):819.
Journal cover image

Published In

J Inherit Metab Dis

DOI

EISSN

1573-2665

Publication Date

October 2007

Volume

30

Issue

5

Start / End Page

819

Location

United States

Related Subject Headings

  • Pregnancy Complications
  • Pregnancy
  • Mutation
  • Live Birth
  • Humans
  • Gravidity
  • Genetics & Heredity
  • Genetic Testing
  • Fructose-Bisphosphatase
  • Fructose-1,6-Diphosphatase Deficiency