Abstract
Protein substitutes developed for phenylketonuria (PKU) are a synthetic source of protein commonly based on L-amino acids. They are essential in the treatment of phenylketonuria (PKU) and other amino acid disorders, allowing the antagonistic amino acid to be removed but with the safe provision of all other amino acids necessary for maintaining normal physiological function. They were first formulated by a chemist and used experimentally on a 2-year-old girl with PKU and their nutritional formulations and design have improved over time. Since 2008, a bioactive macropeptide has been used as a base for protein substitutes in PKU, with potential benefits of improved bone and gut health, nitrogen retention, and blood phenylalanine control. In 2018, animal studies showed that physiomimic technology coating the amino acids with a polymer allows a slow release of amino acids with an improved physiological profile. History has shown that in PKU, the protein substitute’s efficacy is determined by its nutritional profile, amino acid composition, dose, timing, distribution, and an adequate energy intake. Protein substitutes are often given little importance, yet their pharmacological actions and clinical benefit are pivotal when managing PKU.
Highlights
Amino acids are unique substrates providing nitrogen, hydrocarbon skeletons and sulphur [1]
In phenylketonuria (PKU), dietary treatment was made feasible with the introduction of low/free phenylalanine synthetic proteins, that have gradually advanced with time
The results clearly showed the benefit of supplementation [58] and led to the addition of long chain polyunsaturated fatty acids (LC-PUFA) to other products designed for older children
Summary
Amino acids are unique substrates providing nitrogen, hydrocarbon skeletons and sulphur [1]. Følling [2] first identified phenylpyruvic acid in the urine of untreated children with PKU, it was Penrose who recognised that it was a genetic recessive disorder and named it phenylketonuria (PKU) [3]. He was the first to try a dietary treatment based on fruit, sugar, olive oil, and vitamins, but this protein-free diet lacked essential phenylalanine and all other amino acids, resulting in malnutrition and so the treatment was abandoned [4].
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