Alpha-N-acetylgalactosaminidase deficiency type 1
MONDO:0012221Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
Also known as: NAGA deficiency type 1, Schindler disease type 1, Schindler disease, type III, Alpha-N-acetylgalactosaminidase deficiency, type 1, Alpha-N-acetylgalactosaminidase deficiency, type 3, N-acetyl-alpha-D-galactosaminidase deficiency type III, NAGA deficiency, type 1, NAGA deficiency, type 3
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Lysosomal storage disease
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Human disease
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Developmental defect during embryogenesis
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Carbohydrate metabolism disease
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Disease of genetic or genomic mechanism
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Inborn carbohydrate metabolic disorder
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