Inborn Errors of protein Metabolism (IEM)
Inborn errors of protein metabolism are a group of rare inherited genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. Specifically, when we talk about disorders of protein metabolism, the deficient or malfunctioning enzymes are those dedicated to the metabolism of proteins or, more precisely, to the metabolism of the amino acids that make up proteins. To date, various disorders of protein metabolism are known; these can be classified according to the enzyme involved in the genetic defect. The individual enzymes are linked to the metabolism of specific amino acids: it follows that, if there is a defect in the enzyme, there will be a defect in the metabolism of the amino acid it
affects, which is its substrate. This can lead to the accumulation and / or deficiency of specific metabolites and / or the production of toxic metabolites. In order to avoid these conditions, a common factor in the management of these diseases is the limitation of protein intake from the diet, specifically to avoid / limit the intake of the amino acid(s) that the body cannot metabolize. However, to meet the daily protein needs for the patients, it is essential to supplement the diet with specific protein substitutes. GHN Pharma Metabolic offer a wide range of protein replacements that accompany the patient throughout their life, providing them with tailor-made and top quality solutions.
