| Entry |
|
|---|
| Name |
GAA deficiency in glycogen degradation
|
|---|
| Definition |
Glycogen -- AMY >> GAA* |
|---|
| Expanded |
C00369 -- (276,277,278,279,280) >> 2548v1 |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Disease |
| H00069 | Glycogen storage disease |
| H01940 | Glycogen storage disease type II |
|
|---|
| Gene |
| 276 | AMY1A; amylase alpha 1A (salivary) |
| 277 | AMY1B; amylase alpha 1B (salivary) |
| 278 | AMY1C; amylase alpha 1C (salivary) |
| 279 | AMY2A; amylase alpha 2A (pancreatic) |
| 280 | AMY2B; amylase alpha 2B (pancreatic) |
| 2548 | GAA; glucosidase alpha, acid |
|
|---|
| Variant |
|
|---|
| Metabolite |
|
|---|
| Reference |
|
|---|
| Authors |
Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL |
|---|
| Title |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. |
|---|
| Journal |
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|---|
| LinkDB |
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