glycogen storage disease XII

info · Genetic

A glycogen storage disease that has_material_basis_in homozygous mutation in the ALDOA gene which encodes fructose-1,6-bisphosphate aldolase A, on chromosome 16p11.

Signs and symptoms

Elevated circulating creatine kinase activity
Muscle fiber splitting
Hypotonia
Hepatomegaly
Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity
Elevated circulating alanine aminotransferase concentration
Anemia
Increased circulating lactate dehydrogenase concentration
Muscle weakness
Jaundice

Also known as: aldolase A deficiency