glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.
MONDO:0016118
obsolete muscular glycogenosis (obsolete MONDO:0016118)
excluded_subClassOf
MONDO:0016527
glycogen storage disease due to lactate dehydrogenase deficiency
excluded_subClassOf
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0017688
disorder of glycolysis
is_a
GSD 11
related
GSD XI
related
GSD due to lactate dehydrogenase M-subunit deficiency
exact
GSD type 11
related
GSD11
related
LDH-M subunit deficiency
exact
LDHA glycogen storage disease
exact
glycogen storage disease XI
related
glycogen storage disease caused by mutation in LDHA
exact
glycogen storage disease type 11
related
glycogenosis due to lactate dehydrogenase M-subunit deficiency
exact
glycogenosis type 11
related
lactate dehydrogenase A deficiency
exact
lactate dehydrogenase deficiency type A
related
SPAC186.08c