Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.

Hunter syndrome (Mucopolysaccharidosis type II) is an inherited lysosomal storage disorder with potentially severe degenerative consequences. Clinical diagnosis is not easy, although biochemical confirmation is straightforward, and sometimes patients are diagnosed at a late age. It is widely believed, for inborn errors of metabolism in general, that early diagnosis and management is of paramount importance for improving the prognosis of the disease. The objective of this study was to identify specific populations at risk of suffering from Hunter syndrome. Urine samples were obtained from children between the ages of 0 to 18, belonging to known risk groups of mucopolysaccharidosis (MPS) type II, for the semi-quantitative (GAG test) and quantitative determination of glycosaminoglycans (GAG). One case of Hunter syndrome was found among the 130 samples that were collected and analysed. This study supports the feasibility of early diagnosis and the usefulness of screening tests for MPS II in specific paediatric populations.

Metabolic syndrome in childhood.

The so-called epidemic of childhood obesity has increased the interest in the metabolic syndrome (MS) due to the potential projection into adulthood. Prevalence of the MS in adolescents has been estimated to be 6.7% in young adults and 4.2% in adolescents. Figures rise up to 28.7% in overweight and obese adolescents. The most widely accepted hypothesis links the syndrome to obesity. In the Bogalusa study, the best predictors were obesity and being in the upper quartile of basal insulin levels. Ethnic and genetic factors play a role in order to explain the syndrome in the non-obese population and the differences of interobesity. The relationship between MS and type 2 diabetes and cardiovascular disease is well established in adults. This association can be suggested in children as well, although the syndrome in childhood urgently needs to be clearly defined. In this age group, it is also of great interest to identify diagnosis criteria of the so-called pre-MS. Detection of the syndrome focuses mainly on obese and overweight young people. Other population groups such as newborns with low or high birth weight, infants with accelerated growth, or children of obese or with gestational diabetes mothers are at a higher risk of developing peripheral insulin resistance. The measurement of abdominal circumference can be a useful screening tool. Physical exercise and restriction of saturated and trans fatty acids are basic for treatment. If reducing weight is necessary, a reduction of carbohydrate intake, especially for refined sugars, must be emphasised. Dietary fibre improves insulin sensitivity.