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Unit Code 80946:
N-Acetylgalactosamine-6-Sulfate Sulfatase, Fibroblasts

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Method Description

Morquio A disease (MPS IVA) results from a deficiency of the

N-acetylgalactosamine-6-sulfate sulfatase enzyme. This enzyme

hydrolyzes a sulfate group from the 6 position of galactose at the

nonreducing terminus of the mucopolysaccharides, keratin sulfate

and chondroitin-6 sulfate.

 

In this procedure, the tritiated disulfated trisaccharide,

(6-DGalNAc-6-SO[4]) 1-4(beta-DGlcU)1-3 (D-[3]H GalNac-ol-6-SO[4]), is

used as the substrate. The enzyme hydrolyzes the substrate to form

inorganic sulfate and the labeled monosulfated trisaccharide. The

monosulfated product is then separated from the disulfated substrate

by anion exchange chromatography. The product is then quantitated

by scintillation counting. (Glosse J, Kress H:  A sensitive procedure

for the diagnosis of N-acetylgalatosamine-6-sulfate sulfatase

deficiency in classical Morquio's disease. Clin Chim Acta

1978;88:111-119)

Performing Laboratory Location

Rochester

Key