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.
Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.