Mucopolysaccharidosis I, Hurler syndrome: A case report

<p>Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme α-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress. Key words: mucopolysaccharidosis, Hurler syndrome, MPS 1, Hurler, genetic disorder, enzymatic replacement therapy, ERT</p

Online_supplement_777441 – Supplemental material for Effects of sodium citrate, citric acid and lactic acid on human blood coagulation

<p>Supplemental material, Online_supplement_777441 for Effects of sodium citrate, citric acid and lactic acid on human blood coagulation by Vittorio Scaravilli, Luca Di Girolamo, Eleonora Scotti, Mattia Busana, Osvaldo Biancolilli, Patrizia Leonardi, Andrea Carlin, Caterina Lonati, Mauro Panigada, Antonio Pesenti and Alberto Zanella in Perfusion</p