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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
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Abstract:

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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

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