Inborn errors 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.
BIOS’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.
Related diseases
Phenylketonuria (PKU)
Phenylketonuria (PKU) is a condition characterized by the inability of the individual affected to metabolize a specific amino acid, phenylalanine.
Amino acids are the constituent units of proteins and are therefore taken daily in one’s diet. Individuals affected by PKU should follow a phenylalanine-free diet, in order to avoid the appearance and progression of the symptomatic profile of this disease.
Given the impossibility of excluding a specific amino acid from natural proteins, the PKU patient should, in general, follow a protein-free diet and integrate it with adequate protein substitutes (i.e those not containing phenylalanine). The treatment is, however, customized according to the needs of the individual patient.
The nutritional treatment period should not only affect childhood and adolescence, but, based on phenylalanine levels, should continue into adulthood.
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the correct nutritional management of the PKU patient, providing tailor-made solutions for all ages, from infancy to adulthood.
Urea cycle defects (UCD)
Urea Cycle Defects are a group of inherited metabolic diseases, characterized by deficiencies in enzymes and transporters involved in the urea cycle, a metabolic pathway dedicated to the transformation of ammonium (produced by the catabolism of amino acids) into urea, which in turn is eliminated from the body via urine.
The defects of the urea cycle therefore lead to a reduced elimination of ammonium, which is a highly toxic substance for the central nervous system.
Some forms of UCD can be treated exclusively through restricting food proteins, in order to reduce the amount of ammonium deriving from their catabolism.
However, a low-protein diet may not be able to provide the right amount of essential amino acids that the body needs; for this reason, the patient suffering from urea cycle defects should supplement a low-protein diet with a mix of essential amino acids.
Moreover, in some cases it is necessary to intervene with a specific pharmacological treatment that supports the removal of ammonium.
BIOS, always attentive to issues related to rare or low-prevalence diseases, offers a range of amino acid mixtures essential for the proper nutritional management of the patient suffering from defects in the urea cycle, providing tailor-made solutions for all ages, from childhood to adulthood.
Leucinosis (MCUD)
Leucinosis is a hereditary metabolic disease, characterized by the inability of the individual affected to metabolize branched chain amino acids (leucine, isoleucine and valine).
Amino acids are the constituent units of proteins and are therefore daily taken as part of one’s diet. Individuals suffering from Leucinosis should follow a diet without amino acids which fail to metabolise (leucine, isoleucine and valine).
Given the impossibility of excluding these amino acids from natural proteins, the patient will, in general, have to follow a protein-free diet, supplemented with adequate protein substitutes (which do not contain leucine, isoleucine and valine).
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the proper nutritional management of patients suffering from Leucinosis, providing tailor-made solutions for all ages, from infancy to adulthood.
Methylmalonic Aciduria / Propionic Aciduria (MMA / PA)
Methylmalonic Aciduria and Propionic Aciduria are hereditary metabolic diseases related to the metabolism of some amino acids.
Amino acids are the constituent units of proteins and are therefore taken daily as part of one’s diet. Individuals with Methylmalonic or Propionic Aciduria should follow a diet free from the amino acids involved in the pathology (methionine, threonine and valine) and should also take a reduced amount of the amino acid isoleucine.
Given the impossibility of excluding these amino acids from natural proteins, the patient should, in general, follow a protein-free diet, supplemented with adequate protein substitutes (not containing methionine, threonine and valine and with a low content of isoleucine). The treatment is, however, customized according to the individual patient’s protein needs.
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the proper nutritional management of patients affected by Methylmalonic or Propionic Aciduria, providing tailor-made solutions for all ages, from infancy to adulthood.
Glutaric Aciduria type 1 (GA-1)
Glutaric Aciduria is an inherited metabolic disease that involves the metabolism of three amino acids: lysine, hydroxylisine and tryptophan.
Amino acids are the constituent units of proteins and are therefore daily taken as part of one’s diet. Individuals with Glutaric Aciduria type 1 should be on a lysine-free and low-tryptophan diet.
Given the impossibility of excluding these amino acids from natural proteins, the patient should, in general, follow a protein-free diet, supplemented with adequate protein substitutes (free from lysine and with a low tryptophan content). The treatment is, however, customized according to the needs of the individual patient.
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the correct nutritional management of patients suffering from Glutaric Aciduria type 1, providing tailor-made solutions for all ages, from childhood up to adulthood.
Isovaleric Aciduria (IVA)
Isovaleric Aciduria is an inherited metabolic disease related to the metabolism of the amino acid leucine.
Amino acids are the constituent units of proteins and are therefore daily taken as part of one’s diet. Individuals with Isovaleric Aciduria should follow a diet that does not contain the amino acid leucine, in order to minimize isovaleric acid formation.
Given the impossibility of excluding this amino acid from natural proteins, the patient, in general, should follow a protein-free diet, supplemented with adequate protein substitutes (without leucine).
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the correct nutritional management of patients affected by Isovaleric Aciduria, providing tailor-made solutions for all ages, from infancy to adulthood.
Homocystinuria (HOM)
Classical homocystinuria is an inherited metabolic disease characterized by the deficiency of an enzyme involved in the methyl metabolic pathway of the amino acid methionine. This deficiency leads to the accumulation of the amino acid homocysteine in the blood and urine.
Amino acids are the constituent units of proteins and are therefore daily taken as part of one’s diet. Individuals with classic homocystinuria should follow a low-methionine diet.
Given the impossibility of excluding this amino acid from natural proteins, the patient should, in general, follow a protein-free diet, supplemented with adequate protein substitutes (without methionine). The treatment is, however, customized according to the needs of the individual patient.
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the correct nutritional management of the patient suffering from classical Homocystinuria, providing tailor-made solutions for all ages, from infancy to adulthood.
Type 1 Tyrosinemia (HT-1)
Type 1 tyrosinemia is an inherited metabolic disease characterized by the inability of the individual affected to metabolize a specific amino acid, tyrosine.
Amino acids are the constituent units of proteins and are therefore daily taken as part of one’s diet. Individuals with type 1 tyrosinemia should follow a diet that is free from tyrosine and another amino acid involved in the disease, phenylalanine, as a precursor to tyrosine.
Given the impossibility of excluding these amino acids from natural proteins, the patient should, in general, follow a protein-free diet, supplemented with adequate protein substitutes (without tyrosine and phenylalanine). The treatment is, however, customized according to the needs of the individual patient.
BIOS, always attentive to the problems related to rare or low-prevalence diseases, offers a diversified range of specific protein substitutes for the correct nutritional management of patients with type 1 tyrosinemia, providing tailor-made solutions for all ages, from infancy to adulthood.