AB082. Phenotype and genotype of Vietnamese patients with mucopolysaccharidosis II: first case series report

Abstract

Background and objective Mucopolysaccharidosis II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked lysosomal storage disorder. MPS II is caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate in lysosomes. Excessive storage of these GAGs causes a variety of clinical manifestations: coarse facies, hearing loss, cardiac valve disease, restrictive and obstructive airway disease, hepatosplenomegaly, skeletal abnormalities, joint contractures, short stature. The study aims to describe clinical characteristics and to identify mutations in the IDS gene in Vietnamese patients with MPS II.