What does PFK deficiency cause?
Pathophysiology. PFK is needed for glycolysis. The enzyme deficiency results in the accumulation of glycogen in the tissues. The enzyme deficiency can also lead to increased uric acid production and therefore possible gout. There may be a compensated haemolytic anaemia.
How is Tarui disease treated?
Treatment primarily consists of avoiding strenuous exercise. Some patients have been helped by a high protein diet. The enzyme deficiency is due to abnormalities in the muscle phosphofructokinase gene and is inherited as an autosomal recessive genetic disorder. Muscle pain and fatigue on everyday activity and exercise.
Which of the following enzymes lead to a glycogen storage disease known as Tarui’s disease?
Glycogen storage disease type 3 (Forbes disease or GSD3) is a glycogen storage disorder that is inherited as an autosomal recessive disorder. Symptoms are caused by missing enzyme amylo-1,6 glucosidase (debrancher enzyme).
How does Tarui disease affect exercise?
In Tarui disease, the utilization of glycogen during anaerobic exercise is interrupted by the lack of PFKM leading to very low levels of lactate during exercise.
What is GSD1B?
Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body.
What is Gierke’s disease?
Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. Von Gierke disease is also called Type I glycogen storage disease (GSD I).
Which of the following step is inhibited during arsenate poisoning?
Arsenate poisoning As with other arsenic compounds, arsenite binds to lipoic acid, inhibiting the conversion of pyruvate into acetyl-CoA, blocking the Krebs cycle and therefore resulting in further loss of ATP.