| Entry |
|
|---|
| Name |
GALE deficiency in galactose degradation
|
|---|
| Definition |
Gal -- GALM >> GALK1 >> GALT >> GALE* |
|---|
| Expanded |
C00124 -- 130589 >> 2584 >> 2592 >> 2582v1 |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Disease |
| H02010 | Galactose epimerase deficiency |
|
|---|
| Gene |
| 130589 | GALM; galactose mutarotase |
| 2584 | GALK1; galactokinase 1 |
| 2592 | GALT; galactose-1-phosphate uridylyltransferase |
| 2582 | GALE; UDP-galactose-4-epimerase |
|
|---|
| Variant |
2582v1 (GALE*) GALE deficiency
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM |
|---|
| Title |
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. |
|---|
| Journal |
|
|---|
| LinkDB |
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|---|
