Infantile neuroaxonal dystrophy due to deficient α-N-acetylgalactosaminidase activity

  • D. Schindler
  • A. M. Wang
  • R. J. Desnick
Conference paper


This disease is a recently recognized infantile form of neuroaxonal dystrophy resulting from the deficient activity of the lysosomal glycohydrolase, α-N-acetylgalactosaminidase [3, 5, 8]. The enzymatic defect, inherited as an autosomal recessive trait, leads to the tissue accumulation and increased urinary excretion of glycopeptides and oligosaccharides containing α-N-acetylgalactosaminyl moieties. The disorder, first described in two brothers, is characterized by normal development for the first 9 to 12 months of life, followed by the rapid regression of developmental abilities and resulting in profound psychomotor retardation. Pathologically, numerous dystrophic axonal swellings or “spheroids” are found in cortical brain and in the autonomic plexus in rectal mucosa. Biochemical diagnosis is made by demonstrating the deficient activity of α-N-acetylgalactosaminidase in plasma, leukocytes, cultured fibroblasts, lymphoblasts, amniocytes or chorionic villi. The finding that other patients with infantile neuroaxonal dystrophy (i.e., Seitelberger disease) did not have α-Nacetylgalactosaminidase deficiency, indicated that the infantile form is genetically heterogeneous. The recent isolation of the full-length cDNA and complete genomic sequence encoding human α-N-acetylgalactosaminidase permitted the identification of the first molecular defect causing this neuroaxonal dystrophy. These findings suggest that the axonal pathology in this and other neuroaxonal dystrophies may result from abnormal glycoprotein metabolism involving O-linked glycopeptides.


Chorionic Villus Enzymatic Defect Infantile Form Autosomal Recessive Trait Deficient Activity 
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Copyright information

© Springer-Verlag Wien 1995

Authors and Affiliations

  • D. Schindler
    • 1
  • A. M. Wang
    • 2
  • R. J. Desnick
    • 2
  1. 1.Department of Human GeneticsUniversity of WürzburgWürzburgGermany
  2. 2.Department of Human GeneticsMount Sinai School of MedicineNew YorkUSA

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