Mild phenotypic expression of α-N-acetylgalactosaminidase deficiency in two adult siblings
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
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 ofN-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.
- Desnick RJ, Bishop DF (1989) Fabry disease: α-galactosidase A deficiency; Schindler disease; α-N-acetylgalactosaminidase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 1751–1796.
- Girós ML, Alvarez L (1991) Hepatic glycogenosis with defects in the glycogen breakdown pathway: urinary oligosaccharide profile.J Inher Metab 14: 311–314.
- Kanzaki T, Yokota M, Minzuno N, Matsumoto Y, Hirabayashi (1989) Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum.Lancet 1: 875–877.
- Schindler D, Bishop DF, Wolfe DE et al (1989) A neuroaxonal-dystrophy due to lysosomal α-N-acetylgalactosaminidase deficiency.N Engl J Med 320: 1735–1740.
- Schindler D, Kanzaki T, Desnick RJ (1990) A method for the rapid detection of urinary glycopeptides in α-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases.Clin Chim Acta 190: 81–92.
- Skoog WA, Beck WS (1956) Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes.Blood 11: 436–454.
- Tsai MY, Marshall JG (1979) Screening for urinary oligosaccharides and simple sugars by thinlayer chromatography.Med Lab Sci 36: 85–90.
- Van Diggelen OP, Schindler D, Kleijer WJ et al (1987) Lysosomal α-N-acetylgalactosaminidase deficiency: A new inherited metabolic disorder.Lancet 2: 804.
- Van Diggelen OP, Schindler D, Willemsen R et al (1988) α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.J Inher Metab Dis 11: 349–357.
- Wevers RA, de Jong JGN, Wijburg HC, van Diggelen OP (1992) α-N-Acetylgalactosaminidase deficiency in two Dutch children.30th Annual Symposium SSIEM, abstract P189.
- Mild phenotypic expression of α-N-acetylgalactosaminidase deficiency in two adult siblings
Journal of Inherited Metabolic Disease
Volume 17, Issue 6 , pp 724-731
- Cover Date
- Print ISSN
- Online ISSN
- Kluwer Academic Publishers
- Additional Links
- Industry Sectors