Mucopolysaccharidosis type I. a case report

Abstract

   A scientific review is presented covering mucopolysaccharidosis type I (Hurler syndrome) caused by a deficiency of α-L-iduronidase, which leads to excessive accumulation of glucosaminoglycans in cell lysosomes with impairment of their function. The review is illustrated by a clinical example. A boy had a heart rhythm disorder of the arrhythmia type, extrasystole, since the 24th week of gestation, neurological symptoms, respiratory distress syndrome were registered after birth, and dilated cardiomyopathy developed. At the age of 6 months, a mutation of the IDUA gene (chr4:987858C > T was detected, the activity of α-L-iduronidase was 0,03 μmol/liter/hour (the norm is greater than 1,96 μmol/liter/hour). From the age of 8 months, enzyme replacement therapy (ERT) was started with laronidase at a dosage of 100 μg/kg/day. During the second infusion, anxiety and hyperthermia were recorded, there were no further adverse effects. Within 10 weeks of ERT, the progression of the disease is stopped, and the child's neuropsychic development improved. Previously, before the use of ERT, all cases of this disease ended in death in infancy. A special feature of this case is the detection of a rare mutation in the IDUA gene, which is not typical for most Slavic and Turkic peoples.