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A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A). 1990

O P van Diggelen, and H Zhao, and W J Kleijer, and H C Janse, and B J Poorthuis, and J van Pelt, and J P Kamerling, and H Galjaard
Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, The Netherlands.

4-Methylumbelliferyl-beta-D-galactopyranoside-6-sulphate was synthesized and used for the determination of galactose-6-sulphate sulphatase activity. Fibroblasts and leucocytes from 12 different Morquio A patients, showed 0.0-2.7% of mean normal galactose-6-sulphate sulphatase activity. Heterozygotes showed intermediate activities. The enzymatic liberation of the fluorochrome from 4-methylumbelliferyl-beta-D-galactopyranoside-6-sulphate requires the sequential action of galactose-6-sulphate sulphatase and beta-galactosidase. Normal beta-galactosidase activity caused nearly complete hydrolysis of non-fluorescing 4-methylumbelliferyl-galactoside, formed during incubation. In cell extracts with a beta-galactosidase deficiency however, a second incubation in the presence of excess beta-galactosidase is needed to avoid underestimation of galactose-6-sulphate sulphatase activity.

UI MeSH Term Description Entries
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D009085 Mucopolysaccharidosis IV Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. Eccentro-Osteochondrodysplasia,Morquio's Disease,Eccentroosteochondrodysplasia,GALNS Deficiency,Galactosamine-6-Sulfatase Deficiency,MPS IV A,MPS IV B,MPS IVA,MPS IVB,Morquio A Disease,Morquio B Syndrome,Morquio Disease,Morquio Syndrome,Morquio Syndrome A,Morquio Syndrome B,Morquio Syndrome, Type B,Morquio's Disease Type B,Morquio's Syndrome,Morquio-B Disease,Mucopolysaccharidosis 4,Mucopolysaccharidosis 4B,Mucopolysaccharidosis Type IV,Mucopolysaccharidosis Type IV A,Mucopolysaccharidosis Type IV B,Mucopolysaccharidosis Type IVA,Mucopolysaccharidosis Type IVB,Deficiencies, GALNS,Deficiencies, Galactosamine-6-Sulfatase,Deficiency, GALNS,Deficiency, Galactosamine-6-Sulfatase,Disease, Morquio,Disease, Morquio A,Disease, Morquio's,Disease, Morquio-B,Eccentro Osteochondrodysplasia,Eccentro-Osteochondrodysplasias,Eccentroosteochondrodysplasias,GALNS Deficiencies,Galactosamine 6 Sulfatase Deficiency,Galactosamine-6-Sulfatase Deficiencies,IV, Mucopolysaccharidosis Type,IVs, Mucopolysaccharidosis Type,Morquio B Disease,Morquio Syndromes,Morquios Disease,Morquios Syndrome,Mucopolysaccharidosis 4Bs,Mucopolysaccharidosis Type IVBs,Mucopolysaccharidosis Type IVs,Syndrome A, Morquio,Syndrome, Morquio,Syndrome, Morquio B,Syndrome, Morquio's,Syndromes, Morquio,Type IV, Mucopolysaccharidosis,Type IVs, Mucopolysaccharidosis
D002810 Chondroitinases and Chondroitin Lyases Enzymes which catalyze the elimination of glucuronate residues from chondroitin A, B, and C or which catalyze the hydrolysis of sulfate groups of the 2-acetamido-2-deoxy-D-galactose 6-sulfate units of chondroitin sulfate. EC 4.2.2.-. Chondroitinase,Chondroitin-4-Sulfate Depolymerase,Chondroitinases,Chondroitin 4 Sulfate Depolymerase,Depolymerase, Chondroitin-4-Sulfate
D002811 Chondroitinsulfatases A group of enzymes that catalyze the hydrolysis of various sulfate bonds of chondroitin sulfate. EC 3.1.6.-. Chondroitin Sulfohydrolase,Chondroitinsulfatase,Sulfohydrolase, Chondroitin
D004796 Clinical Enzyme Tests Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status. Enzyme Tests, Clinical,Clinical Enzyme Test,Enzyme Test, Clinical,Test, Clinical Enzyme,Tests, Clinical Enzyme
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D005456 Fluorescent Dyes Chemicals that emit light after excitation by light. The wave length of the emitted light is usually longer than that of the incident light. Fluorochromes are substances that cause fluorescence in other substances, i.e., dyes used to mark or label other compounds with fluorescent tags. Flourescent Agent,Fluorescent Dye,Fluorescent Probe,Fluorescent Probes,Fluorochrome,Fluorochromes,Fluorogenic Substrates,Fluorescence Agents,Fluorescent Agents,Fluorogenic Substrate,Agents, Fluorescence,Agents, Fluorescent,Dyes, Fluorescent,Probes, Fluorescent,Substrates, Fluorogenic
D005470 Fluorometry An analytical method for detecting and measuring FLUORESCENCE in compounds or targets such as cells, proteins, or nucleotides, or targets previously labeled with FLUORESCENCE AGENTS. Fluorimetry,Fluorometric Analysis,Analysis, Fluorometric
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006863 Hydrogen-Ion Concentration The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH pH,Concentration, Hydrogen-Ion,Concentrations, Hydrogen-Ion,Hydrogen Ion Concentration,Hydrogen-Ion Concentrations

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