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 â€‹â€‹in the blood and urine.
Amino acids are the constituent units of proteins and are therefore daily taken as part of oneâ€™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.
PIAM, 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.