Article
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
European journal of human genetics : EJHG - 1 Feb 2001
Bakker H D, de Sonnaville M L, Vreken P, Abeling N G, Groener J E, Keulemans J L, van Diggelen O P
Abstract excerpt
Two new individuals with alpha-NAGA deficiency are presented. The index patient, 3 years old, has congenital cataract, slight motor retardation and secondary demyelinisation. Screening of his sibs revealed an alpha-NAGA deficiency in his 7-year-old healthy brother who had no clinical or neurological symptoms. Both sibs are homozygous for the E325K mutation, the same genotype that was found in the most severe form...
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