glycogen storage disease type-VII (Tarui type glycogen storage disease)

Genetics

• autosomal recessive
• associated with defects in PFKM gene

Clinical manifestations

• exercise intolerance with associated nausea & vomiting
• pain & stiffness on exertion
• short bursts of intense activity are particularly difficult
• severe muscle cramps & myoglobinuria develop after vigorous exercise
• most patients obtain a 'second wind' when the onset of exercise is followed by a brief rest period
• in time patients adjust their activity level & are well compensated

Laboratory

• normal response of plasma glucose to IM glucagon
• myoglobinuria after vigorous exercise

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• muscle 6-phosphofructokinase (phosphofructokinase 1, phosphohexokinase, phosphofructo-1-kinase isozyme A, PFK-A, phosphofructokinase-M, PFKM, PFKX)

Database

• OMIM: https://mirror.omim.org/entry/232800