Endogenous metabolic diseases

Endogenous metabolic diseases are a group of rare diseases caused by genetic mutations that cause the absence or dysregulation of enzymes or carrier proteins involved in cellular metabolism.

Some examples of endogenous metabolic diseases that require nutritional management include Phenylketonuria, Tyrosomiasis, Urea Cycle Disorders, Organic Oxyurias, Lysosomal Diseases, Lactosomiasis, Dairy Anaemia, etc.

DEFICIENCIES PREVENTION

Special formulations for metabolic diseases

The enzymatic deficiencies that are created can cause various abnormalities in the metabolism of proteins, lipids or carbohydrates (in their synthesis, assimilation, transport or degradation). They are managed through the lifelong maintenance of a restrictive diet.

However, the dietary manipulations required to manage these diseases may result in a deficiency of essential amino acids, fatty acids or micronutrients.

To prevent these deficiencies, special formulations for metabolic diseases are available that include both macronutrients and micronutrients while omitting the cause of the metabolic disorder and ensuring normal physical and mental development.