SYMPTOMS, DIAGNOSIS AND TREATMENT OF TARUI DISEASE: AN AUTOSOMAL RECESSIVE DISORDER

Sikander Ali*, Bakhtawer Shahzadi and Hira Maqsood

ABSTRACT

Tarui disease is also named as glycogenosis 7, glycogen storage disease VII (GSD VII), GSD7, muscle phosphofructokinase deficiency, PFKM deficiency, and phosphofructokinase deficiency. It is named after his scientist and due to the enzyme; phosphofructokinase, deficiency which is occur in this disease. Due to this enzyme deficiency glycogen will not able to be broken down and start to be accumulated in the muscles. It is a disease of glycogen storage metabolism. On the basis of symptoms and signs it is further divided into classical form, sever infantile form, late-onset form, and hemolytic form. Its symptoms include muscle cramp, pain, spasm, mild jaundice and pain at lower back. PFKM gene mutation causes Tarui disease. The inherited condition is in the pattern of autosomal recessive. Investigations should be carried out to differentiate from other possible jaundice causes. Diagnosis is performed by blood test, urinalysis, imaging and electrophysiology and muscle biopsy and then treatment should be carried out. It involves avoidance from carbohydrate diet, hard exercises and using ketogenic diet. When we use low carbohydrate and high fat diet, body will use fatty acid instead of glucose as a main energy source.

Keywords: Phosphofructokinase, Autosomal recessive, Ketogenic diet.