Aspartylglycosaminuria (AGU) is the commonest disorder in glycoprotein degradation. The mode of inheritance is autosomal recessive.
The cause of AGU is a mutation in the gene for the enzyme glycosylasparaginase which results in the accumulation of various glycoasparagines in the tissues and body fluids..
Affected individuals show normal early development followed by a gradual decline begins in childhood. Young adults suffer severe mental and motor impairment and death.
There is no specific treatment.
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