KEGG   NETWORK: N00747
Entry
N00747                      Network                                

Name
GAA deficiency in glycogen degradation
Definition
Glycogen -- AMY >> GAA*
  Expanded
C00369 -- (276,277,278,279,280) >> 2548v1
Class
nt06017 Glycogen metabolism
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
2548v1 (GAA*)  GAA deficiency
Metabolite
C00369  Glycogen
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
Mol Genet Metab 99:379-83 (2010)
DOI:10.1016/j.ymgme.2009.12.014
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