Enzyme deficiency in Tarui disease is: (A) Glucose-6-phosphatase, (B) Muscle and erythrocyte phosphofructokinase 1, (C) Lysosomal a1 - 4 and a1 - 6 glucosidase, (D) Liver phosphorylase kinase
Answer is B. Type name Enzyme Deficiency Clinical Features VII Tarui disease Muscle and erythrocyte phosphofructokinase 1 Poor exercise tolerance Muscle glycogen abnormally high (2.5%-4%) Blood lactate very low after exercise Also hemolytic anemia Reference: Harper; 30th edition; Table: 18-2; Page no: 179