[MIM 232 800]

(glycogen storage disease type VII, muscle phosphofructokinase deficiency)

Very rare. Glycogen storage disease due to deficiency in phosphofructokinase that regulates the anaerobic glycolysis. Autosomal recessive disorder, most common in Japan and among Jews of Ashkenazi origin. The tetrameric enzyme is controlled by 3 genes: PFKM gene (on 12q13) which codes for the muscle subunit, PFKL gene for the hepatic subunit, PFKP gene for the platelet subunit. The expression of these genes varies according to the tissues: thus, only M subunits are synthesized in muscle. In the typical form of the disease, only the M subunit is deficient.

In general, early fatigue or intolerance to effort: myalgia, cramps and myoglobinuria after exercice. Sometimes chronic hemolysis. Sometimes hyperuricemia with gout attacks ("myogenic hyperuricemia").

Infantile fatal form, very rare: few fetal movements, major hypotonia at birth, contractures, death from respiratory failure.

Anesthetic implications:

avoid tourniquets and muscle compression.

References : 

-        DiMauro S, Spiegel R. 
Progress and problems in muscle glycogenoses. 
Acta Myologica 2011; 30: 96-102.

Updated: September 2018