ArticleOrphanet journal of rare diseases2018
International practices in the dietary management of fructose 1-6 biphosphatase deficiency.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.Italian journal of pediatrics · 2025Observational
- Utility of continuous glucose monitoring for identifying silent hypoglycemia in fructose-1,6-bisphosphatase deficiency: a pilot prospective evaluation.Frontiers in endocrinology · 2025Article
- The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.Case reports in medicine · 2025Article
- A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient.Molecular genetics and metabolism reports · 2024Article
- Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency.JIMD reports · 2024Article
- A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis C.JIMD reports · 2022Article
- The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant.Genetics and molecular biology · 2021Article
- Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.Saudi medical journal · 2020Observational
- Fructose 1,6-Bioscience reports · 2019Article
- Weaning practices in phenylketonuria vary between health professionals in Europe.Molecular genetics and metabolism reports · 2019Article
- Early feeding practices in infants with phenylketonuria across Europe.Molecular genetics and metabolism reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
44 authors at 20 institutions in 16 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn 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.
methodsA 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.
resultsThirty-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.
conclusionsAlthough 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.