A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
ID
http://purl.bioontology.org/ontology/MESH/D006008
altLabel
Glycogen Storage Diseases
Storage Diseases, Glycogen
Diseases, Glycogen Storage
Glycogenoses
Glycogenosis
Storage Disease, Glycogen
Disease, Glycogen Storage
AN
an inborn error of carbohydrate metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui
C0017919
DC
1
definition
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.
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