glycogen storage disease - DocNeuro

McArdle Disease

Naoum P. Issa MD PhD — Sun, 12 Oct 2014 15:25:30 +0000

McArdle disease is a glycogen storage disease in which the enzyme muscle myophosphorylase is deficient. It is commonly known as glycogen storage disease V. The disorder is characterized by exercise-induced muscle pain, myoglobinuria and elevated serum CK sometimes to the degree of clinical rhabdomyolysis with renal dysfunction. Patients have a “second-wind” phenomenon once non-glycogen dependent […]

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Pompe disease

Naoum P. Issa MD PhD — Sun, 16 Feb 2014 20:51:12 +0000

Pompe disease is an autosomal recessive lysosomal glycogen storage disease. Mutations in the acid alpha-glucosidase (GAA) gene on chromosome 17q25.2-q25.3 result in abnormal accumulation of glycogen within lysosomes and subsequent lysosomal dysfunction. Types of Pompe disease Infantile Pompe’s disease Infantile Pompe’s disease presents in the first months of life with failure to thrive, muscle weakness that manifests […]

The post Pompe disease first appeared on DocNeuro.

The post Pompe disease appeared first on DocNeuro.