aspartylglycosaminuria
Last reviewed 01/2018
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.