Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.

Introduction: Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. Sodium-glucose co-transporter 2 inhibitors, such as empagliflozin, facilitate the removal of this toxic metabolite and ameliorate neutropenia-related symptoms, including severe infections and inflammatory bowel disease (IBD). Our case series presents the treatment of three pediatric GSD-1b patients with empagliflozin over a follow-up of three years; the most extended reported follow-up period to date. Cases description: A retrospective analysis of empagliflozin treatment of three pediatric GSD-1b patients (two male and one female; ages at treatment initiation: 4.5, 2.5 and 6 years) was performed. Clinical and laboratory data from a symmetrical period of up to three years before and after the therapy introduction was reported. Data on the clinical course of the treatment, IBD activity, the need for antibiotic treatment and hospitalizations, neutrophil count and function, and markers of inflammation were assessed. Prior the introduction of empagliflozin, patients had recurrent oral mucosa lesions and infections, abdominal pain, and anemia. During empagliflozin treatment, the resolution of aphthous stomatitis, termination of abdominal pain, reduced frequency and severity of infections, anemia resolution, increased appetite, and improved wound healing was observed in all patients, as well as an increased body mass index in two of them. In a patient with IBD, long-term deep remission was confirmed. An increased and stabilized neutrophil count and an improved neutrophil function enabled the discontinuation of G-CSF treatment in all patients. A trend of decreasing inflammation markers was detected. Conclusions: During the three-year follow-up period, empagliflozin treatment significantly improved clinical symptoms and increased the neutrophil count and function, suggesting that targeted metabolic treatment could improve the immune function in GSD-1b patients.

Comment on Jakse et al. Vegan Diets for Children: A Narrative Review of Position Papers Published by Relevant Associations. Nutrients 2023, 15, 4715.

We have read the recent narrative review article by Jakse et al [...].

Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA.

Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially introduced treatment with diet high carbohydrates, according to the recommendations. Progressively she developed left ventricular obstructive hypertrophy, hepatomegaly and skeletal myopathy. At the age of 11 years, she was introduced KD and continuous ketosis has been maintained for over 4 years providing longest reported follow up to date. KD introduction lead to a normalization of left ventricular parameters and ventricular mass and to an improvement in hepatic injury markers and decrease in liver size. We provided a table with biochemical parameters, a table providing detailed diet composition, tables with cardiac and hepatic measures and figures depicting cardiac NMR images; all the tables/figures are provided referring to the KD introduction (values prior/after). Interpretation of this data can be found in a case report article titled "Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa".

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa.

Now 15-year-old girl with glycogen storage disease (GSD) type IIIa (OMIM 232400) developed severe left ventricular obstructive hypertrophy and hepatomegaly while treated with frequent cornstarch meals. Subsequently, she was introduced the ketogenic diet; continuous ketosis has been maintained for over the last 4 years. After the introduction of ketogenic diet, a normalization of the cardiomyopathy and improvement of hepatopathy was achieved, with enhanced overall quality of life.

Iodine intake of Slovenian adolescents.

BACKGROUND: Slovenia is classified as being iodine-deficient. We recently found that Slovenian adolescents are iodine-sufficient (median urinary iodine concentration of the population 140 microg/l) and the prevalence of goiter is low (0.9%). The objective of this study was to evaluate iodine intake, the prevalence of marginal, low and excessive intake (<50, 50-100 and >or=300 microg/day), as well as the main sources of iodine in the diet of Slovenian adolescents. METHODS: A cross-sectional study included 2,581 adolescents (1,415 girls, 1,166 boys, mean age +/- SD 15.6 +/- 0.5 years) representing 10% of 15-year-old Slovenian adolescents. Iodine intake was determined using a food frequency questionnaire (FFQ) in the whole population studied (n = 2,485) and weighted 3-day dietary protocols (3DPs) in a subgroup of participants (n = 191). RESULTS: Median iodine intake determined from FFQ was 155.8 microg/day. There was no significant difference between genders. Marginal, low and excessive iodine intake was observed in 3.3, 20.3 and 11.3% of the adolescents, respectively. The major food sources of dietary iodine included table salt (39 % of the mean daily iodine intake), beverages (22%) and milk/milk products (19%). CONCLUSIONS: Dietary iodine intake in Slovenian adolescents is adequate, illustrating the effective salt iodization program.

Decreased prevalence of hypercholesterolaemia and stabilisation of obesity trends in 5-year-old children: possible effects of changed public health policies.

BACKGROUND: Overweight/obesity in children is a worldwide public health problem. Together with hypercholesterolaemia they are associated with early atherosclerotic complications. OBJECTIVES: In this study, we aimed to investigate the anthropometric characteristics and total cholesterol (TC) levels in a population of 5-year-old children, to determine trends in the prevalence of overweight/obesity and hypercholesterolaemia in 5-year-old children over a period of 8 years (2001-2009) and to assess the impact of modified national nutritional guidelines for kindergartens implemented in 2005. DESIGN: Cross-sectional studies of overweight/obesity prevalence in the years 2001, 2003-2005 and 2009, and hypercholesterolaemia in years 2001 and 2009, in 5-year-old children. SUBJECTS: Altogether, 12 832 (6308 girls/6524 boys) children were included. METHODS: Overweight/obesity was defined by IOTF criteria. Hypercholesterolaemia was defined by TC level >5 mmol/l. Multivariable logistic regression models were used. RESULTS: NO CORRELATION BETWEEN BMI VALUES AND TC LEVELS WAS FOUND. OVERWEIGHT AND OBESITY PREVALENCE WERE STABILISED FROM 2001 TO 2009 (ODDS RATIO (OR) (95% CI): 1.13 (0.99-1.3) and 1.13 (0.89-1.42) respectively). Girls were more frequently overweight/obese than boys (OR (95% CI): 0.71 (0.65-0.79) and 0.75 (0.64-0.89) respectively). Prevalence of hypercholesterolaemia significantly decreased from 2001 to 2009 (OR (95% CI): 0.47 (0.41-0.55)). It was less frequent in boys than in girls (OR (95% CI): O.7 (0.61-0.8)). CONCLUSIONS: This is the first study to describe a negative trend in the prevalence of hypercholesterolaemia in pre-pubertal children. In addition, the prevalence of overweight/obesity in these children has been stabilised. Nationwide changes in public health policies could have influenced these observations.

Adequate iodine intake of Slovenian adolescents is primarily attributed to excessive salt intake.

In Slovenia, table salt iodization has been applied to combat iodine deficiency. Recently, we found that Slovenian adolescents attained iodine sufficiency (median urinary iodine concentration was 140 microg/L; prevalence of goiter was <1%). National data indicate that salt intake of Slovenian population is too high (150% above the recommended limit); therefore, we hypothesized that sufficient iodine intake in adolescents can be primarily attributed to excessive salt intake. In a cross-sectional study, we investigated iodine and salt intake in Slovenian adolescents as well as the contributions of different foods to their intake. We determined the iodine and salt intake of a national representative sample of 2581 adolescents, aged 14 to 17 years, using the Food Frequency Questionnaire (FFQ). The FFQ covered habitual diets over the past year, and 2485 (96%) adolescents completed a valid FFQ (1370 girls, 1115 boys). The iodine intake was 189.7 +/- 2.6 microg/d (mean +/- standard error of mean), well above the recommended 150 microg/d (P < .001). Table salt was by far the biggest dietary source of iodine and sodium for both sexes. Total salt intake (mean +/- standard error of mean, 10.4 +/- 0.2 g/d) significantly exceeded the upper World Health Organization limit (<5 g/d, P < .001), especially in boys (11.5 +/- 0.3 vs 9.4 +/- 0.2 g/d in girls, P < .001). The main food sources of salt were table salt (33%), bread (24%), salty snack products (10%), meat products (8%), fish products (6%), and milk (4%). Salt intake from foods, excluding table salt, was 6.9 g/d (67% of total salt intake). We conclude that although Slovenian adolescents are iodine sufficient, their salt intake, especially among boys, is too high. Several nutritional interventions are proposed to reduce total salt intake while ensuring adequate iodine intake.