Aspartylglucosaminuria (AGU) is a serious inherited disorder that affects the central nervous system and other parts of the body.
Here's a breakdown of AGU disease:
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Definition: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions.
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Key characteristics based on the reference:
- It is an autosomal recessive disorder, meaning both parents must carry the faulty gene for a child to inherit the condition.
- It is a lysosomal storage disorder, indicating a problem with the lysosomes (cellular organelles responsible for breaking down certain molecules). This leads to a buildup of undigested material.
- It primarily affects the central nervous system.
- It also causes skeletal abnormalities and connective tissue lesions.
- A defining symptom is progressive mental retardation.
In summary, AGU disease is a rare, inherited metabolic disorder that causes significant neurological and physical problems.
