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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.
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
October 1999,
Biochimica et biophysica acta,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
June 1989,
The New England journal of medicine,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
September 1990,
Clinica chimica acta; international journal of clinical chemistry,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
August 1991,
The Journal of clinical investigation,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
May 2002,
Journal of dermatological science,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
January 1998,
Ryoikibetsu shokogun shirizu,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
September 1995,
Journal of the neurological sciences,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
February 2007,
Journal of inherited metabolic disease,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
January 2013,
Progress in neurobiology,
O P van Diggelen, and
D Schindler, and
R Willemsen, and
M Boer, and
W J Kleijer, and
J G Huijmans, and
W Blom, and
H Galjaard
March 1996,
Clinica chimica acta; international journal of clinical chemistry,
