All issues > Volume 32(7); 1989

Original Article

J Korean Pediatr Soc. 1989;32(7):978-983. Published online July 31, 1989.

Late Infantile Metachromatic Leukodystrophy-Arylsulfatase A Assay in 24h Urine.

Hong Jin Lee¹, Yong Joon Shin¹, Yong Seung Hwang¹, Hyung Ro Moon¹, Jeong Seon Seo²

¹Departments of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
²Department of Biochemistry, College of Medicine, Seoul National University, Seoul, Korea

Received: August 16, 1988;  Accepted: December 6, 1988.

Abstract

A 2 year 5 month old female infant with late infantile metachromatic leukodystrophy was diagnosed by typical clinical and laboratory findings and Arylsulfatase A assay in 24h urine. The patient’s mother was confirmed as a heterozygote by Arylsulfatase A activities in 24h urine which was about one half of normal control groups.

Keywords :Metachromatic leukodystrophy, Arylsulfatase A