Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

doi:10.1007/BF02265264

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Article

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

Human genetics - 1 Feb 1996

Krasemann E W, Meier V, Korenke G C, Hunneman D H, Hanefeld F

Abstract excerpt

Adrenoleukodystrophy (ALD), an X-linked inherited metabolic disorder, is the most frequent inborn peroxisomal disease. It leads to demyelination in the central and peripheral nervous system. Defective beta-oxidation of saturated very long chain fatty acids (VLCFAs; C22:0-C26:0) in peroxisomes has...

Topics

Addison Disease
Adrenoleukodystrophy
DNA Mutational Analysis
Female
Genes
Genetic Carrier Screening
Humans
Male
Molecular Sequence Data
Mutation
Pedigree

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