Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase …

What is phosphofructokinase deficiency (Tarui disease, glycogenosis type 7)? This disease is one of a group of metabolic muscle disorders that interferes with the processing of food (in this …

Phosphofructokinase deficiency (Tarui disease) was the first disorder recognized to directly affect glycolysis. Since the discovery of the disease, in 1965, a wide range of biochemical, …

Phosphofructokinase deficiency is a rare genetic disorder that affects how the body metabolizes sugar for energy production. This condition is caused by mutations in the gene responsible for …

2023年4月20日 · Phosphofructokinase (PFK) deficiency is a glycogen storage disorder (GSD). It is rare and is inherited as an autosomal recessive disorder. There is a mutation in the gene …

2023年10月5日 · Tarui disease is known by many other names, such as glycogenesis 7, phosphofructokinase deficiency, GSD7, GSD VII, and glycogen storage disease type VII. …

Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. Non-insulin-dependent diabetes mellitus (NIDDM) is caused by …