Final answer:
Cori/Forbes disease, or GSD III, is a genetic metabolic disorder caused by a deficiency of the debrancher enzyme, leading to accumulation of abnormal glycogen. It can result in liver enlargement, hypoglycemia, and muscle weakness. Similar genetic conditions like G6PD deficiency also involve enzyme deficiencies affecting metabolism.
Step-by-step explanation:
Cori/Forbes Disease (GSD III) Explained
Cori/Forbes disease, also known as Glycogen Storage Disease Type III (GSD III), is an inherited metabolic disorder characterized by a deficiency of the debrancher enzyme. This enzyme is crucial for the proper degradation of glycogen, which is the stored form of glucose in the body. The lack of this enzyme leads to the accumulation of abnormal glycogen molecules, which can cause damage to various organs, particularly the liver and muscles, leading to symptoms such as hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), and myopathy (muscle weakness).
The condition is genetic, and similar metabolic diseases are often the result of specific genetic mutations that impede the synthesis of critical proteins or enzymes. For instance, glucose-6-phosphate dehydrogenase (G6PD) deficiency is another genetic disorder where there is a shortage of the G6PD enzyme. This enzyme is important in the pentose phosphate pathway for maintaining the level of NADPH, which helps protect red blood cells from oxidative damage. GSD III is different from G6PD deficiency but falls into a similar category of metabolic and genetic disorders affecting enzyme function.
Treatment for Cori/Forbes disease may include dietary management to maintain blood sugar levels, as well as physical therapy to improve muscle function. Technological and medical advances, such as gene therapy, may offer future avenues for treatment of enzyme deficiencies, including GSD III.