Abstract
Phenylketonuria (PKU) is caused by a deficient activity of enzyme phenylalanine (Phe) hydroxylase, which results in high Phe blood concentration, which is toxic to the central nervous system. The f...
Highlights
Phenylketonuria (PKU; Online Mendelian Inheritance in Man (OMIM) 261600; International Classification of Diseases, Thenth Revision (ICD-10) E70.0) is an inborn error of amino acid metabolism caused by a deficient activity of phenylalanine hydroxylase (PAH), an enzyme that converts essential amino acid phenylalanine (Phe) into tyrosine (Tyr), a nonessential amino acid that becomes essential in PKU
Phenylalanine is an ubiquitous amino acid, present in almost all proteins, so the design of a low Phe diet meant that normal protein sources had to be eliminated from diet and replaced by an artificial amino acid source containing a low amount of this amino acid
Formula distribution throughout the day is important and a minimum intake of 3 servings is recommended; when it is given as a single dose, urinary nitrogen excretion, protein catabolism, and amino acids oxidation could increase with a concomitant protein synthesis decline.[15,30]
Summary
Guillen-Lopez Sara, MS, RD1, Lopez-Mejıa Lizbeth Alejandra, RD1, Ibarra-Gonzalez Isabel, MS2, and Vela-Amieva Marcela, MD1
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