glycogen storage disease due to muscle beta-enolase deficiency
Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.
MONDO:0016118
obsolete muscular glycogenosis (obsolete MONDO:0016118)
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0017688
disorder of glycolysis
is_a
GSD due to muscle beta-enolase deficiency
exact
GSD13
related
GSDXIII
exact
glycogen storage disease 13
related
glycogen storage disease XIII
related
glycogen storage disease due to muscle beta-enolase deficiency
exact
glycogen storage disease type 13
exact
glycogenosis due to muscle beta-enolase deficiency
exact
glycogenosis type 13
exact
muscle enolase deficiency
exact
muscular enolase deficiency
exact
SPBPB21E7.01c SPBC1815.01