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Summary
GLYCOGEN STORAGE DISEASE TYPE XIII
GSD13 ENOLASE 3 DEFICIENCY
612932
OMIM = Online Medalian Inheritance of Men
99849
17p13.2
very rare (3 cases)
autosomal recessive
symptoms
exercise intolerance
muscle cramps
muscle weakness
onset, adulthood
pain, muscle
rhabdomyolysis
laboratory finding
Creatine kinase increasedserum
Glycogen increasedmuscle
Myoglobin increasedurine
Beta-enolase decreased activitymuscle
Literature
Ohura Tet al.Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)J Inher Met Dis300139-1442007
Koeberl DDet al.Glycogen storage disease types I and II: treatment updatesJ Inher Met Dis300159-1642007