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Congenital disorders of protein metabolism

Congenital disorders of protein metabolism are part of the large family of Hereditary Metabolic Diseases (HMDs), genetic transmission pathologies characterized by a deficiency in the functioning (total or partial) of certain enzymes.

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 in fact 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. These changes can also cause serious damage to the patient’s health (neurological damage, movement disorders, liver damage, etc).

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 of these patients, it is essential to supplement the diet with specific protein substitutes: in fact, they provide the necessary protein quota, but they lack the amino acid(s) which would accumulate inside the body.

PIAM’s mission is to offer a complete range of protein replacements that accompany the patient throughout their life, providing them with tailor-made and top quality solutions.

PIAM offers nutritional therapies for:

– Phenylketonuria (PKU)

– Type 1 tyrosinemia (HT-1)

– Glutaric Aciduria type 1 (GA-1)

– Isovaleric Aciduria (VAT)

– Methylmalonic Aciduria and Propionic Aciduria (MMA / PA)

– Classical homocystinuria (HOM)

– Leucinosis or maple syrup urine disease (MSUD)

– Urea cycle disorders (UCD)