interleukin-8 and Mucopolysaccharidosis-I

Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the first decade due to cardio-pulmonary complications. New data suggest that inflammation may play a role in MPS pathophysiology. To date there is almost no information on the pathophysiologic changes within the cerebral spinal fluid (CSF) of these patients. We evaluated the CSF of 25 consecutive patients with MPS-IH. While CSF glucose and total protein were within the normal range, we found a significantly mean elevated CSF opening pressure at 24 cm H

Topics: Adaptor Proteins, Signal Transducing; Adolescent; Biomarkers; Cerebrospinal Fluid Pressure; Chemokine CCL2; Chemokine CXCL12; Child; Child, Preschool; Female; Gene Expression; Glucose; Heparitin Sulfate; Humans; Iduronidase; Infant; Interleukin-8; Male; Mucopolysaccharidosis I; Mutation; Nerve Tissue Proteins