Internal Medicine

0521779407-14 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:16

1002 Mucopolysaccharidoses

➣MPS excretion: CS

DS=dermatan sulfate; HS=heparan sulfate; KS=keratan sulfate;

CS=chondroitin sulfate; C4S=chondroitin 4-sulfate; C6S=chon-

droitin 6-sulfate

tests

Laboratory

■basic blood studies:

➣normal routine studies

■basic urine studies:

➣normal routine studies

Screening

■urine mucopolysaccharides

➣thin-layer chromatography

■one-dimensional electrophoresis

➣high false+/−with spot or turbidity tests

Confirmatory Tests

■enzyme assay (lymphocytes, fibroblasts)

■prenatal diagnosis (enzyme activity in amniocytes, chorionic villi)

Imaging

■skeletal X-ray: dysostosis multiplex

■echocardiography: valve disease, endocardial fibroelastosis

differential diagnosis

■anticonvulsant therapy

■congenital hypothyroidism

■oligosaccharidoses/other lysosomal disorders:

➣mannosidosis

➣fucosidosis

➣sialidosis

➣galactosialidosis

➣aspartylglycosaminuria

■GM1 gangliosidosis

➣multiple sulfatase deficiency

I-cell disease (normal urine mucopolysaccharides, increased

serum lysosomal enzyme activities diagnostic)

■genetic syndromes:

➣Coffin-Lowry syndrome

Coffin-Siris syndrome