Hostname: page-component-78c5997874-t5tsf Total loading time: 0 Render date: 2024-11-17T14:04:59.720Z Has data issue: false hasContentIssue false
  • English
  • Français

Pseudoarylsulfatase-A Deficiency in the Neurologically Impaired Patient

Published online by Cambridge University Press:  18 September 2015

Kevin Farrell ,
D.A. Applegarth ,
J.R. Toone ,
P.M. McLeod  and
A.V. Savage
Kevin Farrell*
Affiliation:
Department of Pediatrics. University of British Columbia (Drs. Farrell and Applegarth); Biochemical Diseases Laboratory, British Columbia’s Children’s Hospital, Vancouver (Drs. Applegarth, Toone and Savage); Department of Medical Genetics, University of British Columbia (Dr. McLeod)
D.A. Applegarth
Affiliation:
Department of Pediatrics. University of British Columbia (Drs. Farrell and Applegarth); Biochemical Diseases Laboratory, British Columbia’s Children’s Hospital, Vancouver (Drs. Applegarth, Toone and Savage); Department of Medical Genetics, University of British Columbia (Dr. McLeod)
J.R. Toone
Affiliation:
Department of Pediatrics. University of British Columbia (Drs. Farrell and Applegarth); Biochemical Diseases Laboratory, British Columbia’s Children’s Hospital, Vancouver (Drs. Applegarth, Toone and Savage); Department of Medical Genetics, University of British Columbia (Dr. McLeod)
P.M. McLeod
Affiliation:
Department of Pediatrics. University of British Columbia (Drs. Farrell and Applegarth); Biochemical Diseases Laboratory, British Columbia’s Children’s Hospital, Vancouver (Drs. Applegarth, Toone and Savage); Department of Medical Genetics, University of British Columbia (Dr. McLeod)
A.V. Savage
Affiliation:
Department of Pediatrics. University of British Columbia (Drs. Farrell and Applegarth); Biochemical Diseases Laboratory, British Columbia’s Children’s Hospital, Vancouver (Drs. Applegarth, Toone and Savage); Department of Medical Genetics, University of British Columbia (Dr. McLeod)
*
Division of Neurology, British Columbia’s Children’s Hospital, 4480 Oak Street, Vancouver, B.C., Canada V6H 3V4
Rights & Permissions [Opens in a new window]

Abstract:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The demonstration of low arylsulfatase-A (ASA) activity in leucocytes or fibroblasts is used often to establish the diagnosis of metachromatic leucodystrophy (MLD). However, low ASA activity is observed also in pseudo-ASA deficiency which may be as common as MLD. We report two patients with pseudo ASA deficiency who had abnormal neurological findings consistent with atypical MLD. Because the measurement of ASA activity is neither a sensitive nor specific method with which to establish a diagnosis of MLD, this diagnosis should be confirmed by nerve biopsy, measurement of urinary sulfatide or a cerebroside sulfate loading test, using cultured fibroblasts.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 12 , Issue 3 , August 1985 , pp. 274 - 277
Copyright
Copyright © Canadian Neurological Sciences Federation 1985

References

REFERENCES

1.Kolodny, EH, Moser, HW.Sulfatide lipidosis: metachromatic leucodystrophy, in The Metabolic Basis of Inherited Disease. 5th ed, Edited by Stanbury, JB, Wyngaarden, JB, Fredrickson, DS, New York. McGraw-Hill 1983; 881–905.Google Scholar
2.Kihara, H.Genetic hetrogeneity in metachromatic leucodystrophy. Am J Hum Genet 1982; 34: 171–180.Google Scholar
3.Butterworth, J, Broadhead, DM, Keay, AJ.Low arylsulfatase A activity in a family without metachromatic leukodystrophy. Clinical Genetics 1978; 14: 213–218.Google Scholar
4.Raghavan, SS, Gajewski, A, Kolodny, EH.Leucocyte sulfatidasefor the reliable diagnosis of metachromatic leucodystrophy. J Neurochem 1981; 36: 724–731.CrossRefGoogle Scholar
5.Baum, H, Dodgson, KS and Spencer, B.The assay of aryl sulphatases A and B in human urine. Clin Chim Acta 1959; 4: 453.CrossRefGoogle Scholar
6.Suzuki, K.Enzymic diagnosis of the sphingolipidoses in methods of Enzymology. Vol L (Complex Carbohydrates), ed. Victor Ginsberg 1978; 468–471.Google Scholar
7.Applegarth, DA, Wood, S, Toone, JR.Manual of methods used to investigate biochemical diseases. Children’s Hospital, Vancouver (1984).Google Scholar
8.Kihara, H, Ho, C-K, Fluharty, AL, Tsay, KKet al. Prenatal diagnosis of Metachromatic Leukodystrophy in a family with Pseudo Arylsulfatase A deficiency by the Cerebroside Sulfate Loading Test. Pediat Res 1980; 14: 224–227.CrossRefGoogle Scholar
9.Poulos, A and Beckman, K.The rapid assay of cerebroside sulphate sulphatase using (3H) cerebroside sulphate as substrate. Clin Chim Acta 1978; 89: 417–420.CrossRefGoogle ScholarPubMed
10.Lowry, OH, Rosebrough, NJ, Farr, AL, et al. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193: 265.CrossRefGoogle ScholarPubMed
11.Stevens, RL, Fluharty, AL, Kihara, H, et al. Cerebroside sulfatate activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet 33: 900–906.Google Scholar
12.Fujibayashi, S, lnui, K and Wenger, DA.Activator protein-deficient metachromatic leukodystrophy: Diagnosis in leukocytes using immunologic methods. J Pediatr 1984; 104: 739–742.CrossRefGoogle ScholarPubMed
13.Harben, AM, Krawiecki, N, Marcus, R, et al. A Km mutant of arylsulfatase A. Clin Chimica Acta 1982; 125: 351–354.CrossRefGoogle Scholar
14.Langenbeck, V, Dunker, P, Heipertz, R, et al. Inheritance of metachromatic leukodystrophy. Am J Hum Genet 1977; 29:638.Google ScholarPubMed
15.Kihara, H, Fluharty, AL.Letter to the Editor: Frequency of the PD allele. Pediatr Res 1980; 14; 890.Google Scholar
16.Schaap, T, Zlotogora, J, Elian, E, et al. The genetics of the Aryl Sulfatase A Locus. Hum Genet 1981; 35; 531–539.Google Scholar
17.Feigin, I.Diffuse cerebral sclerosis (Metachromatic leuko-encephalopathy). Am J Pathol 1954; 30: 715–737.Google ScholarPubMed
18.Bubis, JJ, Adlesberg, L.Congenital metachromatic leucodystrophy. Acta Neuropathol 1966; 6: 298–302.CrossRefGoogle Scholar
19.Buonanno, FS, Ball, MR, Laster, W, et al. Computed tomography in late-infantile metachromatic leucodystrophy. Ann Neurol 1978; 4: 43–46.CrossRefGoogle Scholar
20.Nyberg-Hansen, R.Metachromatic leucodystrophy: Two unusual cases of the late infantile form. J Neurol 1972; 203: 145–154.CrossRefGoogle ScholarPubMed
21.Dubois, G, Turpin, JC, Georges, MC.et al. Arylsulfatases A and B in leucocytes: A comparative statistical study of late infantile and juvenile forms of metachromatic leucodystrophy and controls. Biomedicine 1980; 33: 2–4.Google Scholar
22.Peiffer, J, Harzer Kand, Scholet W.Diffuse-Disseminated Sclerosis combined with a partial Arylsulfatase A (ASA) Deficiency. Mixed Heterozygosity of ASA- and Pseudo-ASA-Deficiency? Neuropediatrics 1984; 15: 59–62.CrossRefGoogle ScholarPubMed
23.Vos, AJM, Joosten, EMG, Gabreels-Festen, AAWM, et al. The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and otherconditions with low leucocyte arylsulphatase A activities. Neuropediatrics 1982; 13: 42–47.CrossRefGoogle Scholar