Arylsulfatase A deficiency (less than 15% of controls) is responsible for a neurological disorder known as metachromatic leukodystrophy. Nonetheless, low levels of the enzyme (15–50% of controls, higher than in metachromatic leukodystrophy) in adult patients have been related to neuropsychiatric disorders. On the other hand, there are only few and controversial data on the significance of reduced arylsulfatase A activity in children. This led us to perform the present study. Various classes of arylsulfatase A activity in children have been related with different groups of neuropsychiatric disorders and compared with a similar number of healthy children. We found a high percentage of reduced arylsulfatase A (less than 50% of controls) in children with pervasive developmental disorders (10.25%). Unexpectedly, raising the threshold level for considering arylsulfatase A deficiency up to 70% of controls resulted in a marked increase in the incidence of pervasive developmental disorders. This new class, arylsulfatase A slight deficiency, contained the highest number of patients affected by psychiatric symptoms. This suggests that arylsulfatase A slight deficiency could be a marker of a subclass of pervasive developmental disorders.
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- Metachromatic leukodystrophy.in: Scriver C.R Beaudet A.L Sly W.S Valle D The metabolic and molecular bases of inherited disease. 8th ed. McGraw-Hill, New York2001: 3695-3724
- Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.Arch Neurol. 1995; 52: 408-413
- Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency.Neurology. 1994; 44: 152-154
- Non-progressive psychomotor retardation in a child with severe deficiency of arylsulfatase A activity.Clin Genet. 1984; 26: 462-471
- Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.Brain Dev. 2000; 22: 390-393
- Pseudoarylsulfatase A deficiency in a psychiatrically disturbed adolescent.J Am Acad Child Adolesc Psychiatry. 1989; 28: 444-449
- Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.Am J Med Genet. 1991; 40: 365-369
- Diagnostic and statistical manual of mental disorders. IVth ed. American Psychiatric Press, Washington, DC1994
- Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccaridoses.Clin Chem. 1989; 35: 1472-1477
- Techniques in diagnostic human biochemical genetics. A laboratory manual. 1st ed. Wiley-Liss, New York1991
- Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis.in: Scriver C.R Beaudet A.L Sly W.S Valle D The metabolic and molecular bases of inherited disease. 7th ed. McGraw-Hill, New York1995: 2693-2739
- The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients.Hum Genet. 1986; 74: 244-248
- Prevalence of partial cerebroside sulfate sulfatase (arylsulfatase A) defect in adult psychiatric patients.Biol Psychiatry. 1985; 20: 50-57
- Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.Ann Neurol. 1993; 34: 212-218
Accepted: May 29, 2002
Received in revised form: May 14, 2002
Received: January 10, 2002
© 2002 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.