title: Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies.
abstract: A 4-year old boy died of diffuse disseminated sclerosis (DDS) of the brain and was found to have also pseudoarylsulfatase A deficiency (PASAD) with about 20% residual arylsulfatase A (ASA) and cerebroside sulfatase (CS) activity. The reexamination of lipids did not show any sulfatide accumulation in the patient's organ extracts. Although the residual CS activity in the patient's extracts was clearly demonstrable only after partial purification, it was concluded that this activity protects organ tissues from sulfatide accumulation in PASAD, since in sulfatide lipidosis (metachromatic leukodystrophy, MLD) no residual CS activity was detectable. The study of residual ASA activity in the patient's fibroblasts by gel electrofocusing resulted in an almost normal enzyme microheterogeneity. However, the detailed study of the brain galactolipids in the patient revealed an elevated ratio of sulfatide/galactocerebroside content, despite the decrease of both lipids. In tissues of other patients with severe demyelinating diseases different from DDS and MLD, this galactolipid ratio was also found to be increased, especially in three patients with adrenoleukodystrophy. A general mechanism of this anomaly in severe demyelination is considered.
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000378:metabolism; D000328:Adult; D001921:Brain / Q000378:metabolism*; D002553:Cerebroside-Sulfatase / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D005260:Female; D038983:Galactolipids; D005699:Galactosylceramides / Q000378:metabolism; D006017:Glycolipids / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000378:metabolism*; D013433:Sulfoglycosphingolipids / Q000378:metabolism
chemical_list: D038983:Galactolipids; D005699:Galactosylceramides; D006017:Glycolipids; D013433:Sulfoglycosphingolipids; D002553:Cerebroside-Sulfatase