Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots

Clinical Chemistry

Volumn 54, Issue 11, 2008, Pages 1925-1927

  Tan, Mohd A F ^a,b,c   Dean, Caroline J ^a   Hopwood, John J ^a,b   Meikle, Peter J ^a,b,d,e  

^a Lysosomal Diseases Research Unit   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c SCHOOL OF HEALTH SCIENCES   (Malaysia)

^d BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^e NONE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CEREBROSIDE SULFATASE; POLYCLONAL ANTIBODY; RECOMBINANT PROTEIN;

CENTRAL NERVOUS SYSTEM; DEMYELINATION; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE FREQUENCY; HETEROZYGOTE; HUMAN; IMMUNOASSAY; LETTER; LEUKOCYTE; LYSOSOME STORAGE DISEASE; METACHROMATIC LEUKODYSTROPHY; QUANTITATIVE DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

ANIMALS; CASE-CONTROL STUDIES; CEREBROSIDE-SULFATASE; CHO CELLS; CRICETINAE; CRICETULUS; HUMANS; IMMUNOASSAY; LEUKODYSTROPHY, METACHROMATIC; REPRODUCIBILITY OF RESULTS;

EID: 55349107221     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2008.108456     Document Type: Letter

References (5)

1. von Figura K, Gieselmann V, Jaeken J. Metachromatic leukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York (NY): McGraw-Hill; 2001. p. 3695-724.
2. Hohenschutz C, Friedl W, Schlor KH, Waheed A, Conzelmann E, Sandhoff K, et al. Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology. Am J Med Genet 1988;31: 169-75.
3. Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, et al. Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 2000;46:1318-25.
4. Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001;47:1378-83.
5. Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-14.