H01952
H number H01952
Name Glycogen storage disease type XII
Description Glycogen storage disease type XII (GSD-XII) is an autosomal recessive disorder of glycogen metabolism. GSD-XII is caused by mutations in the ALDOA gene, which encodes the red cell aldolase. The typical presentation is hemolytic anemia, neurologic abnormalities, and myopathy with exercise intolerance.
Category Inherited metabolic disease