Aspartylglucosaminuria (Q61129): Difference between revisions

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Latest revision as of 08:37, 14 August 2026

Aspartylglycosaminuria is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group that is due to deficiency in N-aspartylglycosaminidase. Clinical signs include slowly developing intellectual deficit, beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.

Language	Label	Description	Also known as
default for all languages	ID_2143470200
English	Aspartylglucosaminuria	Aspartylglycosaminuria is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group that is due to deficiency in N-aspartylglycosaminidase. Clinical signs include slowly developing intellectual deficit, beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis.