Abstract
BackgroundIn phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15–43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters.ResultsCGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027).ConclusionsBiochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.
Highlights
Phenylketonuria (PKU, OMIM # 261,600) is an inborn error of phenylalanine (Phe) metabolism caused by deficiency of phenylalanine hydroxylase [1]
There were no changes in blood Phe levels in this older cohort of patients with PKU, which is in line with the previous findings with casein glycomacropeptide (CGMP)-AA studies [12], patients ≥ 12 years of age maintained higher upper target blood Phe levels than children
We had no specific marker of adherence with L-amino acid supplements (L-AA) or CGMP are supplemented with rate-limiting amino acids (CGMP-AA), we examined many biochemical and nutritional parameters
Summary
Phenylketonuria (PKU, OMIM # 261,600) is an inborn error of phenylalanine (Phe) metabolism caused by deficiency of phenylalanine hydroxylase [1]. PKU is successfully managed by a Phe-restricted diet supplemented with Phe-free L-amino acid supplements (L-AA) [2]. Casein glycomacropeptide (CGMP) has been prescribed as an alternative protein substitute in PKU. In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). Studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15–43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters
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