RESUMO
BACKGROUND/AIMS: Berardinelli-Seip syndrome (BSS), also termed congenital generalized lipodystrophy or congenital generalized lipoatropic diabetes, is a rare autosomal recessive disease characterized by the nearly complete absence of metabolically active adipose tissue from birth, extreme insulin resistance, diabetes mellitus, and hepatomegaly. The aim of this study was to evaluate the effect of diet intervention and oral zinc supplementation on the metabolic control of BSS patients. METHODS: During a 3-month period, 10 BSS patients received individualized diets and oral zinc supplementation. Food intake, clinical laboratory parameters, serum zinc and leptin, and plasma C-peptide concentrations were evaluated at the beginning of the study and after 3 months. RESULTS: At the beginning of the study, all patients had elevated energy, protein, total fat, carbohydrate, calcium, iron, and zinc intakes. After 3 months, all of these parameters had decreased. Total fiber intakes remained low before and after diet intervention and oral zinc supplementation, and plasma levels of fasting glucose remained high. In contrast, glycated hemoglobin decreased significantly. Plasma leptin, C-peptide, and serum zinc levels increased during venous zinc tolerance testing, but there were no significant differences between the 2 curves obtained before and after diet intervention and oral zinc supplementation. CONCLUSIONS: Diet intervention and oral zinc supplementation were effective at controlling energy consumption, macronutrients, and glycated hemoglobin. Zinc likely acts as an adjunct therapy, thereby improving the effectiveness of leptin.