PMID: 36575Mar 1, 1979

Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies

J R ClarkJ M Vidgoff


A 15-year-old girl with juvenile-onset metachromatic leukodystrophy (MLD) had markedly decreased leukocyte arylsulfatase A activity and low levels of leukocyte beta galactosidase and serum acid phosphatase. There was marked slowing of nerve condition velocity, and metachromasia was seen in biopsied sural nerve. Leukocyte arylsulfatase A activity was decreased in all members of the girl's family, and sural nerve action potentials were abnormal in two asymptomatic siblings. Electrophysiologic studies combined with biochemical studies may aid in the identification of presymptomatic metachromatic leukodystrophy homozygotes or asymptomatic heterozygotes.


Oct 1, 1992·Italian Journal of Neurological Sciences·C A ZambrinoG Lanzi
Nov 21, 1997·Pediatric Neurology·T BalslevR H Haslam
Mar 1, 1982·Archives of Disease in Childhood·R MacFaulA E Whitfield
Jan 1, 1988·Brain & Development·Y MizunoK Komiya
Mar 31, 2004·Muscle & Nerve·Carol L CameronH Royden Jones
Jan 1, 1986·Journal of Child Neurology·R G Miller, N L Kuntz
Apr 1, 1987·Journal of Child Neurology·A K Percy
Mar 1, 1985·Muscle & Nerve·R G MillerA J Sumner

Related Concepts

Leukodystrophy, Metachromatic
Structure of Sural Nerve
Action Potentials
Arylsulfatase A Deficiency
Nerve Conduction Function
Entire Sural Nerve

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