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Mild phenotypic expression of α‐ N ‐acetylgalactosaminidase deficiency in two adult siblings
Author(s) -
Chabás A.,
Coll M. J.,
Aparicio M.,
Diaz E. Rodriguez
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00712015
Subject(s) - angiokeratoma , phenotype , urinary system , medicine , pathology , gastroenterology , endocrinology , biology , biochemistry , gene
Summary Two adult siblings with an α‐ N ‐acetylgalactosaminidase deficiency are described. The patients' major features are massive lymphoedema and angiokeratoma corporis diffusum. Neurological evaluation performed in one of the patients was considered within normal limits. Blood type is A positive in each case. Ultrastructural examination of skin revealed numerous vacuoles in endothelial cells and pericytes. Fibroblast activity of α‐ N ‐acetylgalactosaminidase was decreased to 0.6–2% of mean normal value. Chromatography of urinary oligosaccharides showed abnormal bands identical to those excreted by two infantile patients with Schindler disease. The bands were identified as sialyloligosaccharides, and gas chromatography revealed the presence of N ‐acetylgalactosamine‐rich compounds accounting for 30% of the total monosaccharide content of the oligosaccharide fraction. These findings confirm the heterogeneity of α‐ N ‐acetylgalactosaminidase deficiency and emphasize the need to consider this lysosomal storage disease in the differential diagnosis of patients with angiokeratoma.