[MIM 232 800]

(deficiency in muscular phosphofructokinase)

Very rare.

Clinical presentation:

-        hemolytic anemia without spherocytosis but with hyperuricemia: jaundice, gouty arthritis

-        muscular signs: myalgias, cramps, transient myoglobinuria, intolerance to effort

Other presentations:

-        hemolytic anemia without muscular involvement

-        infantile form: contractures, cortical blindness, cataract

-        late form with proximal or scapulo-peroneal myopathy

-        cardiomyopathy

Anesthetic implications: 

check hemoglobin level. Administer glucose-containing fluids (check glycemia).

References : 

-        Rocha CT.
Metabolic muscle disorders in infants and children.
J Pediatr Biochemistry 2014 ; 4 : 231-248.

Updated: June        2017