| Symbol
| GLB1
|
| Location
| 3p22.3
|
| Name
|
generalized gangliosidosis, infantile type |
| Other name(s)
|
Hurler variant
pseudo-Hurler disease |
| Corresponding gene
|
GLB1
|
| Main clinical features
|
severe cerebral degeneration leading to death within the first 2 years of life with accumulation of ganglioside in neurons, and in hepatic, splenic and other histiocytes, and in renal glomerular epithelium; and presence of skeletal deformities resembling Hurler disease |
| Genetic determination
| autosomal recessive |
| Related entries
| including generalized gangliosidosis juvenile type 2 (OMIM 230600)
|
| Function/system disorder
| osteo-articular |
|
| metabolism/carbohydrates |
| Type
| disease
|