DNA-based diagnosis of arylsulfatase a deficiencies as a supplement to enzyme assay: A case in point

Clinical Biochemistry

Volumn 30, Issue 1, 1997, Pages 57-61

  Coulter Mackie, Marion B ^a,b   Applegarth, Derek A ^a,b   Toone, Jennifer ^b   Vallance, Hilary ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

Author keywords

arylsulfatase A; metachromatic leukodystrophy; pseudodeficiency

Indexed keywords

ARYLSULFATASE; CEREBROSIDE SULFATASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; DNA DETERMINATION; ENZYME ASSAY; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; METACHROMATIC LEUKODYSTROPHY; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK ASSESSMENT;

ALLELES; ARYLSULFATASES; CELL LINE; CEREBROSIDE-SULFATASE; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; HETEROZYGOTE DETECTION; HUMANS; LEUKOCYTES; LEUKODYSTROPHY, METACHROMATIC; MALE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0031026616     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(96)00124-5     Document Type: Article

References (14)

1. Kolodny EH, Fluharty AL, Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Stanbury JB, Wyngaarden JB, Fredrickson DS, (Eds.) The metabolic and molecular bases of inherited disease. 7th ed. Vol. 2. Pp. 2693-2739. New York: McGraw-Hill, Inc., 1995.
2. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V, Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med 1991; 324: 18-22.
3. Dubois G, Harzer K, Baumann N, Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family. Am J Hum Genet 1977; 29: 191-194.
4. Chang PL, Rosa NE, Varey PA, Kihara H, Kolodny EH, Davidson RG, Diagnosis of pseudoarylsulfatase A deficiency with electrophoretic techniques. Pediatr Res 1984; 18: 1042-1045.
5. Nelson PV, Carey W, Morris CP, Population frequency of the arylsulphatase A pseudo-deficiency allele. Hum Genet 1991; 87: 87-88.
6. Gieselmann V, Polten A, Kreysing J, von Figura K, Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and n-glycosylation site. Proc Nat Acad Sci USA 1989; 86: 9436-9440.
7. Leinekugel P, Michel S, Conzelmann E, Sandhoff K, Quantitative correlation between the residual activity of β-hexoaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 1992; 88: 513-523.
8. Coulter-Mackie MB, Rip J, Ludman MD, Beis J, Cole DEC, Metachromatic leukodystrophy (MLD) in a patient with a constitutional ring chromosome 22. J Med Genet 1995; 32: 787-791.
9. Barth ML, Fensom A, Harris A, Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. Hum Genet 1993; 91: 73-77.
10. Shen N, Li Zhen-G, Waye JS, Francis G, Chang PL, Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. Am J Med Genet 1993; 45: 631-637.
11. Baum H, Dodgson KS, Spencer B, The assay of arylsulfatases A and B in human urine. Clin Chim Acta 1959; 4: 453-455.
12. Innis MA, Gelfand DH, Sninsky JJ, White TJ (Eds.) PCR Protocols. A guide to methods and applications. 1st ed. San Diego: Academic Press, 1990.
13. Heukels-Dully MJ, Niermeijer MF, Variation in lysosomal enzyme activity during growth in culture of human fibroblasts and amniotic fluid cells. Exp Cell Res 1976; 97: 574-580.
14. Gieselmann V, Fluharty AL, Tønnesen T, von Figura K, Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet 1991; 49: 407-413.