[Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis].

Objective: To explore the incidence of various types of mucopolysaccharidosis (MPS) and their clinical characteristics.

Methods: A total of 75 children highly suspected as having MPS underwent quantitative and electrophoretic analysis of urinary glycosaminoglycans (GAGs) and enzymatic analysis of seven types of MPS from January 2009 to December 2011. Fluorescence assay was used to measure the activities of α-L-iduronidase, iduronate-2-sulfatase, α-N-acetylglucosaminidase, galactosamine-6-sulfatase, β-galactosidase, arylsulfatase B and β-glucuronidase in the white blood cells.

[Mucopolysaccharidosis VII: report of a case and review of the literature].

Objective: To investigate the clinical characteristics and diagnosis of mucopolysaccharidosis VII.

Method: The clinical and biochemical features of an infant with mucopolysaccharidosis VII confirmed by enzyme assay were analyzed.

Result: The 2 month-old male infant showed hydrops fetalis, mental retardation, coarse face, corneal clouding, hepatosplenomegaly, hernias, Alder-Reilly granules in the leucocytes and decreased platelet (32 × 10(9)/L).