alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder

A new lysosomal storage disease with autosomal recessive inheritance is described in two male siblings of 5 1/2 and 4 years of age. Clinical manifestations started after 9 months of age with neurological symptoms, followed by progressive psychomotor deterioration. Urinary oligosaccharide excretion was abnormal and showed a characteristic pattern on chromatography. Enzyme assays showed a profound deficiency of lysosomal alpha-N-acetylgalactosaminidase in cultured fibroblasts, leukocytes and plasma from the patients and reduced activity in material from the parents. The deficiency was demonstrated both with an artificial substrate and a natural one, the blood group A trisaccharide. Excessive intra-lysosomal storage of alpha-N-acetylgalactosamine-containing material was demonstrated in cultured fibroblasts from the patients, using the lectin from Helix pomatia which is specific for terminal alpha-N-acetylgalactosamine residues.