@article{3178639,
    title = "International practices in the dietary management of fructose 1-6
biphosphatase deficiency",
    author = "Pinto, A. and Alfadhel, M. and Akroyd, R. and Altinok, Y. Atik and and Bernabei, S. M. and Bernstein, L. and Bruni, G. and Caine, G. and and Cameron, E. and Carruthers, R. and Cochrane, B. and Daly, A. and de and Boer, F. and Delaunay, S. and Dianin, A. and Dixon, M. and Drogari, E. and and Dubois, S. and Evans, S. and Gribben, J. and Gugelmo, G. and and Heidenborg, C. and Hunjan, I. and Kok, I. L. and Kumru, B. and Liguori, and A. and Mayr, D. and Megdad, E. and Meyer, U. and Oliveira, R. B. and and Pal, A. and Pozzoli, A. and Pretese, R. and Rocha, J. C. and and Rosenbaum-Fabian, S. and Serrano-Nieto, J. and Sjoqvist, E. and Timmer, and C. and White, L. and van den Hurk, T. and van Rijn, M. and Zweers, H. and and Ziadlou, M. and MacDonald, A.",
    journal = "Orphanet Journal of Rare Diseases",
    year = "2018",
    volume = "13",
    publisher = "BioMed Central Ltd.",
    issn = "1750-1172",
    doi = "10.1186/s13023-018-0760-3",
    keywords = "Fructose 1,6 bisphosphatase deficiency; Dietary restrictions; Fasting
tolerance; Uncooked cornstarch",
    abstract = "Background: In fructose 1,6 bisphosphatase (FBPase) deficiency,
management aims to prevent hypoglycaemia and lactic acidosis by avoiding
prolonged fasting, particularly during febrile illness. Although the
need for an emergency regimen to avoid metabolic decompensation is well
established at times of illness, there is uncertainty about the need for
other dietary management strategies such as sucrose or fructose
restriction. We assessed international differences in the dietary
management of FBPase deficiency.
Methods: A cross-sectional questionnaire (13 questions) was emailed to
all members of the Society for the Study of Inborn Errors of Metabolism
(SSIEM) and a wide database of inherited metabolic disorder dietitians.
Results: Thirty-six centres reported the dietary prescriptions of 126
patients with FBPase deficiency. Patients’ age at questionnaire
completion was: 1-10y, 46% (n = 58), 11-16y, 21% (n = 27), and >16y,
33% (n = 41). Diagnostic age was: <1y, 36% (n = 46); 1-10y, 59% (n =
74); 11-16y, 3% (n = 4); and >16y, 2% (n = 2). Seventy-five per cent
of centres advocated dietary restrictions. This included restriction of:
high sucrose foods only (n = 7 centres, 19%); fruit and sugary foods (n
= 4, 11%); fruit, vegetables and sugary foods (n = 13, 36%).
Twenty-five per cent of centres (n = 9), advised no dietary restrictions
when patients were well. A higher percentage of patients aged >16y
rather than <= 16y were prescribed dietary restrictions: patients aged
1-10y, 67% (n = 39/58), 11-16y, 63% (n = 17/27) and >16y, 85% (n =
35/41). Patients classified as having a normal fasting tolerance
increased with age from 30% in 1-10y, to 36% in 11-16y, and 58% in
>16y, but it was unclear if fasting tolerance was biochemically proven.
Twenty centres (56%) routinely prescribed uncooked cornstarch (UCCS) to
limit overnight fasting in 47 patients regardless of their actual
fasting tolerance (37%). All centres advocated an emergency regimen
mainly based on glucose polymer for illness management.
Conclusions: Although all patients were prescribed an emergency regimen
for illness, use of sucrose and fructose restricted diets with UCCS
supplementation varied widely. Restrictions did not relax with age.
International guidelines are necessary to help direct future dietary
management of FBPase deficiency."
}