International practices in the dietary management of fructose 1-6 biphosphatase deficiency.

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.

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

BACKGROUND: Within Europe, the management of pyridoxine (B6) non-responsive homocystinuria (HCU) may vary but there is limited knowledge about treatment practice. AIM: A comparison of dietetic management practices of patients with B6 non-responsive HCU in European centres. METHODS: A cross-sectional audit by questionnaire was completed by 29 inherited metabolic disorder (IMD) centres: (14 UK, 5 Germany, 3 Netherlands, 2 Switzerland, 2 Portugal, 1 France, 1 Norway, 1 Belgium). RESULTS: 181 patients (73% >16 years of age) with HCU were identified. The majority (66%; n=119) were on dietary treatment (1-10 years, 90%; 11-16 years, 82%; and >16 years, 58%) with or without betaine and 34% (n=62) were on betaine alone. The median natural protein intake (g/day) on diet only was, by age: 1-10 years, 12 g; 11-16 years, 11 g; and >16 years, 45 g. With diet and betaine, median natural protein intake (g/day) by age was: 1-10 years, 13 g; 11-16 years, 20 g; and >16 years, 38 g. Fifty-two percent (n=15) of centres allocated natural protein by calculating methionine rather than a protein exchange system. A methionine-free l-amino acid supplement was prescribed for 86% of diet treated patients. Fifty-two percent of centres recommended cystine supplements for low plasma concentrations. Target treatment concentrations for homocystine/homocysteine (free/total) and frequency of biochemical monitoring varied. CONCLUSION: In B6 non-responsive HCU the prescription of dietary restriction by IMD centres declined with age, potentially associated with poor adherence in older patients. Inconsistencies in biochemical monitoring and treatment indicate the need for international consensus guidelines.

Does a preference for fatty foods prior to commencing treatment with the ketogenic diet predict the efficacy of this diet?

The ketogenic diet can be effective in children who suffer from drug-resistant epilepsy. However, it is still hard to predict how large an effect this diet will have for an individual child. Previous data suggests a high-fat food preference is more likely in those with epilepsy, as assessed by in-person forced-choice design. The aim of this study is to examine whether a partiality to fatty foods prior to commencing the ketogenic diet can be used as a predictive factor for the efficacy of this diet in children with drug-resistant epilepsy. Data from 43 children aged between 2 and 19 years was used in this retrospective, non-controlled, non-randomised, open study. All children had followed the ketogenic diet for a period of 3 months or more. Before commencing the diet, a food record was collected for each child to determine the percentage of daily energy-intake accounted for by fats. Parents of the participants completed a questionnaire to measure fat-preference in the pre-diet period and received a score to objectify the efficacy of the treatment. The raw scores on the food record and on the questionnaire were divided into subgroups. Subsequently Kendall's tau-b was calculated for the correlation between each combination of variables. A non-significant correlation was found for the relationship between the food record and the questionnaire (p=.939), the relationship between the food record and the efficacy of the treatment (p=.827) and the relationship between the questionnaire and the efficacy of the treatment (p=.539). This means treatment efficacy cannot be predicted by the child's food preference.

[Obese children and their treatment]. / Obese kinderen en hun behandeling.

Retrospectively the data were analyzed of 188 children treated for obesity. The mean age at which obesity begins is 5,5 years, but the mean age at which medical help is sought is 9,5 years. In 78% of these children one or both parents were obese. The mean caloric value of the pretreatment feeding pattern was 924 kJ (220 kCal) less than the reference quantities for age. Thirty-nine percent of cases stopped visiting the clinic themselves. Mean weight loss is 10% of the median weight-for-height. No differences were found between the results of various therapeutical regimens.