Abstract
ABSTRACTObjective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib.Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the classification of glycogenosis (type Ia=5 and type Ib=6), aged between 4 and 20 years. The analyzed anthropometric variables were weight, height, body mass index, and measures of lean and fat body mass, which were compared with reference values. For dietary assessment, a food frequency questionnaire was used to calculate energy and macronutrients intake as well as the amount of raw cornstarch consumed. Mann-Whitney U test and Fisher’s exact test were performed, considering a significance level of 5%.Results: Patients ingested raw cornstarch in the amount of 0.49 to 1.34 g/kg/dose at a frequency of six times a day, which is lower than recommended (1.75-2.50 g/kg/dose, four times a day). The amount of energy intake was, on average, 50% higher than energy requirements; however, carbohydrate intake was below the adequacy percentage in 5/11 patients. Short stature was found in 4/10 patients; obesity, in 3/11; and muscle mass deficit, in 7/11. There were no statistical differences between the subgroups.Conclusions: In patients with glycogenosis type I, there was deficit in growth and muscle mass, but no differences were found between the subgroups (Ia and Ib). Although the diet did not exceed the adequacy of carbohydrates, about 1/3 of the patients presented obesity, probably due to higher energy intake.
Highlights
Glycogenosis type I (GSD I) is an inborn error of glycogen metabolism and is related to a deficiency in the activity of the enzyme glucose-6-phosphatase.[1,2] It can be subdivided into two main types: type Ia, in which inactivity of the glucose-6-phosphatase enzyme is observed; and type Ib, in which there is a defect in glucose-6-phosphate transport.[1,3] Its incidence is estimated at 1: 100,000 live births.[4]As a consequence, GSD I can lead to the accumulation of glycogen in the liver, kidneys, and intestinal mucosa, in addition to metabolic consequences such as hypoglycemia, lactic acidosis, hyperlipidemia, and hyperuricemia
All patients orally consumed raw cornstarch diluted in water as part of the treatment, with a median intake of six times/ day, at regular intervals
GSD I can have a strong impact on the patient’s nutritional status and diet therapy is paramount, there are few studies that address the quantitative assessment of the diet of these patients in addition to cornstarch intake
Summary
Glycogenosis type I (GSD I) is an inborn error of glycogen metabolism and is related to a deficiency in the activity of the enzyme glucose-6-phosphatase.[1,2] It can be subdivided into two main types: type Ia, in which inactivity of the glucose-6-phosphatase enzyme is observed; and type Ib, in which there is a defect in glucose-6-phosphate transport.[1,3] Its incidence is estimated at 1: 100,000 live births.[4]. GSD I can lead to the accumulation of glycogen in the liver, kidneys, and intestinal mucosa, in addition to metabolic consequences such as hypoglycemia (which can lead to seizures), lactic acidosis, hyperlipidemia, and hyperuricemia. Clinical signs, such as dolllike facies and hepatomegaly, are frequent. Glycogenosis (GSD) type Ib differs from type Ia by the recurrent infections associated with neutropenia and neutrophil dysfunction presented by the patients.[2,3,5,6,7]
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