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Chemical Detection of Metachromatic Leukodystrophy in Disease and Carrier States
Theodore N. Hackett, Jr.;
Roberta J. Hackett, MA;
Patrick F. Bray, MD;
Jack A. Madsen, MD
Am J Dis Child. 1971;122(3):223-225.
Abstract
In the unusual hereditary metabolic disorder known as metachromatic leukodystrophy (MLD) the affected person has a marked depletion in the leukocyte concentration of arylsulfatase A. In our study of two families this generalization holds for both late infantile and juvenile forms of the disease. In addition, the white blood cells (WBC) of the carrier appear to contain an amount of the enzyme which is intermediate between that of the affected patient and controls, which suggests a gene-dose effect.
Author Affiliations
Salt Lake City
From the Division of Pediatric Neurology, departments of neurology and pediatrics, University of Utah College of Medicine (Mr. Hackett and Drs. Bray and Madsen), and St. Mark's Hospital (Mrs. Hackett), Salt Lake City.
Footnotes
Received for publication Jan 29, 1971; accepted June 2.
Reprint requests to Division of Pediatric Neurology, University of Utah College of Medicine, Salt Lake City 84112 (Dr. Bray).
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