Disease |
Affected tissues |
Mode of transmission |
Clinical presentation |
|---|
Glucose-6-phosphatase deficiency (Type I, von Gierke) |
Liver, kidney |
AR |
Severe hypoglycemia; hepatomegaly |
Infantile acid maltase deficiency (Type II, Pompe) |
Generalized |
AR |
Lethal infantile neuromyopathy: severe cardiomyopathy, hypotonia, respiratory failure, death <1 year. |
Acid maltase deficiency, juvenile/adult |
Generalized |
AR |
Slowly progressive myopathy; often with respiratory insufficiency |
Debrancher enzyme deficiency (Type III, Cori/Forbes) |
Generalized |
AR |
Hepatomegaly; fasting hypoglycemia; limb weakness |
Branching enzyme deficiency (Type IV, Andersen) |
Generalized |
AR |
Hepatosplenomegaly; liver cirrhosis; liver failure |
Muscle phosphorylase deficiency (Type V, McArdle) |
Skeletal muscle |
AR |
Exercise-induced myalgia, cramps; myoglobinuria |
Phosphoglycerate kinase (PGK) deficiency |
Generalized |
XR |
Variable: hemolytic anemia; seizures; mental retardation; exercise intolerance; myoglobinuria |
Glycogen synthetase deficiency |
Liver |
AR |
Severe fasting hypoglycemia with ketosis |
AR, autosomal recessive; XR, X-linked recessive. |
