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Diagnosis of classical Morquio's disease: N ‐acetylgalactosamine 6‐sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi
Author(s) -
Yuen M.,
Fensom A. H.
Publication year - 1985
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801671
Subject(s) - amniotic fluid , chorionic villi , medicine , fetus , endocrinology , chemistry , mucopolysaccharidosis , prenatal diagnosis , glycosaminoglycan , andrology , pregnancy , microbiology and biotechnology , biology , biochemistry , genetics
Abstract The tritiated disulphated trisaccharide 6‐sulpho‐ N ‐acetylgalactosamine‐glucuronic acid‐6‐sulpho‐ N ‐acetyl[1‐ 3 H]galactosaminitol was prepared from chondroitin 6‐sulphate for use as a substrate for N ‐acetylgalactosamine 6‐sulphate sulphatase. The reaction product was separated on ECTEOLA cellulose rather than Dowex 1×2. The mean activities of normal fibroblasts, leukocytes and amniotic cells were 8.43, 2.59 and 3.14 nmol h −1 mg protein −1 , respectively. Fibroblasts from five patients with classical Morquio's disease (mucopolysaccharidosis IVA; MPSIVA) and one patient with neonatal multiple sulphatase deficiency displayed activities of less than 5% of control mean. Activity in amniotic cells from a pregnancy where the fetus was affected with MPS IVA was 6% of control mean. Activity was also found to be present in normal specimens of chorionic villi (mean value 1.21 nmol h −1 mg protein −1 ), demonstrating the feasibility of first trimester prenatal diagnosis of MPS IVA by assay of activity in this tissue.