Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase (IDS). The human IDS gene is located in chromosome Xq28. This is the first report of genotype and phenotype characterization of 49 Hunter patients from 40 families of Argentina. Thirty different alleles have been identified, and 57% were novel. The frequency of de novo mutations was 10%. Overall, the percentage of private mutations in our series was 75%.

The enrolment of Argentinean patients into the Fabry Registry has steadily increased, as has the inclusion of female and paediatric patients with FD. The medical community in Argentina should be aware of FD in these populations, as awareness will facilitate prompt diagnosis and initiation of treatment, thus leading to improved outcomes.

Background Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A ( GLA ). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina. Methods By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree. Results Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%. Conclusion The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.

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Introduction: Fabry disease is a x-chromosome hereditary disease with an incidence of 1/40000 newborns. Nowadays it presents as much in males as in females and its first clinical symptoms are seen in pediatric patients. Patients have reduced or no activity of alpha-galactosidase which leads to progressive accumulation of GL-3 in lysosomes of all types of cells. This early deposition disrupts lysosomal function, leading to cell death, metabolic problems, vascular lesions, endothelial dysfunction, oxidative stress, alterations in autophagy tissue ischemia, and finally producing fibrosis Case Report in different tissues. On the other hand, ureteropelvic junction obstruction (UPJO) is the most frequent congenital anomaly of the urinary tract; with an incidence of 1 in 1000-2000 newborns. A patient with antenatal diagnosis of Fabry disease and pre-natal diagnosis of UPJ is described. GL-3 deposits were found in all progeny of renal cells in the surgical biopsy. Patient Report: Prenatal diagnosis of FD and severe left hydronephrosis (left renal pelvis 23 mm) He was born at term with adequate weight. Enzymatic activity of Alpha-Gal A was low and the molecular analysis confirmed the family's mutation. Pyeloplasty was performed when he was 17 months old and, having obtained informed consent, a small piece of kidney was studied, showing evidence of characteristic GL-3 deposits in all cell types and showed podocyte "effacement", a marker of injury and stress. Conclusion:We demonstrate in this report that the deposits that lead to the sequence of a series of inflammation and fibrosis are present at a very early age. Based upon this finding, one can speculate about the prevention of late lesions with an early start of enzyme replacement therapy (ERT). Long term follow-up studies will be necessary to confirm this hypothesis.