Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2044 |
| Primary information | |
|---|---|
| ID | 2044 |
| Disorder | Aspartylglycosaminuria (AGU) |
| Inheritance | Autosomal recessive |
| Organ Affected | Nervous System, skeletal abnormalities and connective tissue lesions, Bone |
| Onset | Early |
| Genotype-Phenotype Correlation | G172D mutant essentially has no hydrolase activity.T203I mutant protein showed a small but significant level of hydrolase activity |
| Refrences | 25456816 |