phosphofructokinase deficiency

Phosphofructokinase deficiency also presents in a rare infantile form.

Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease, is metabolic disorder with autosomal recessive inheritance.

Tarui's disease - An inborn error of glycogen metabolism characterized by phosphofructokinase deficiency in the muscles, associated with abnormal deposition of glycogen in muscle tissues.

Electromyography (EMG) may show particular patterns in specific muscle diseases; for instance, McArdle's disease and phosphofructokinase deficiency show a phenomenon called cramp-like contracture.

Health issues are usually similar in both types of English Springer however phosphofructokinase deficiency in particular can appear more in field lines, however carriers in show lines have been identified.

Phosphofructokinase deficiency is a condition caused by a recessive gene in the breed which prevents the metabolism of glucose into energy, causing the dog to be extremely low energy and unable to exercise.

Tarui Disease GSD VII PFKM Deficiency Muscle Phosphofructokinase Deficiency None Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body.

Retinal dysplasia (RD), which can cause blindness and Phosphofructokinase deficiency (PFK), which is genetic deficiency which impairs the ability of cells using carbohydrates for energy are two other hereditary conditions for which both lines of the English springer spaniel should be screened prior to breeding.