Phosphofructokinase deficiency

The disease Tarui (German Tarui 's disease), glycogen storage disease type VII, also Tarui glycogenosis or Phosphofruktokinasemangel ( PFKM ), named after Seiichiro Tarui ( Japanese physician and professor of internal medicine), is an autosomal recessive inherited metabolic disease with a defect in the enzyme phosphofructokinase, more precisely the Isoenzymform of the muscle ( PFK -M). Due to the failure of the synthesis of fructose-1 ,6- bisphosphate (see glycolysis ), there is load-dependent muscle weakness with muscle aches and hemolytic anemia. Responsible mutations in PFKM gene on chromosome 12, locus 12q13.3.

Clinical examination and follow

The disease manifests in early childhood. Clinically, patients are striking with a partly significant exercise intolerance, often. Associated with muscle pain, nausea and vomiting In parallel, shows a compensated hemolytic anemia with increased reticulocyte counts and hyperbilirubinemia. A hyperuricemia under load is also observed.

Diagnostics

The diagnosis extends to the detection of lack of enzyme activity in muscle and erythrocytes. In individual cases, a molecular genetic analysis clarity.

Therapy

The treatment is purely symptomatic. Patients should largely avoid physical exertion.