Walsh & Hoyt: Disorders of Lipid Metabolism

Metachromatic leukodystrophy is a disorder of lipid metabolism caused by a deficiency of arylsulfatase A, an enzyme present in nearly all cells of the body. The name is derived from the metachromatic staining of abnormally stored galactosphingosulfatides in the white matter of the brain. The inheritance is autosomal recessive. The gene is on chromosome 22 (q13.31-qter). Giselman and colleagues reported 39 different mutations in this gene. The enzymatic deficiency leads to the accumulation of cerebroside sulfate (galactocerebroside-1-sulfate), a major constituent of myelin and cell membranes. Because of the large amount of cerebroside sulfate in myelin, the largest accumulation is in oligodendrocytes. Damage to these cells leads to demyelination. Refsum disease (heredopathia atactica polyneuritiformis)