Glycogen Storage Disease Type VII

Glycogen Storage Disease Type VII [PFKM]: PFKM mutations lead to the inability of muscles to properly use glycogen, resulting in muscle weakness and eventual breakdown. There are 4 types of GSDVII: classical form of GSDVII (childhood onset muscle pain and cramps, nausea and vomiting after strenuous exercise, myoglobinuria that can damage the kidneys and lead to kidney failure); severe infantile form (leading to jaundice, hypotonia, weakened and enlarged heart and difficulty breathing normally leading to death in the first year of life); late-onset form (myopathy, generally affecting proximal muscles); hemolytic form (hemolytic anemia without muscle pain or weakness).

Ashkenazi Jewish Carrier Frequency: 1 in 250