A disease caused by Lysosomal dysfunction?

Concept: Lysosomal dysfunction are inborn metabolic abnormalities characterised by the accumulation of excess substrates in the cells of diverse organs due to lysosome dysfunction.

Lysosomal storage illnesses are inherited metabolic diseases defined by an abnormal accumulation of numerous harmful chemicals in the cells of the body as a result of enzyme abnormalities.

There are roughly 50 of these disorders in all, and they can affect various sections of the body such as the skeleton, brain, skin, heart, and central nervous system.

Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that affects the central nervous system and results in skeletal and connective tissue abnormalities. Progressive mental impairment is the most distinguishing feature.

The illness is caused by a lack of activity of the lysosomal enzyme glycosylasparaginase, which results in the accumulation of a sequence of glycoasparagines, which are glycoconjugates with an aspartylglucosamine moiety at the reducing end, in bodily fluid and tissue.