Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse

Dijkstra, Arnoud; Vliet, Ninke van; Vliet, Danique van; Romani, Cristina; Huijbregts, Stephan C. J.; Goot, Els van der; Zee, Eddy A. van der; Kema, Ido P.; Heiner‐Fokkema, M. Rebecca; Spronsen, Francjan J. van

doi:10.1016/j.ymgme.2021.09.004

Cited by 13 publications

(11 citation statements)

References 46 publications

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“…Thus, the total amount of the “informative” correlations (of AA vs. some enzymes) for each group was the following: 33, 30, 28 and 1 for the groups 3, 4, 1, 2 ( Table 7 , Table 9 , Table 3 and Table 5 , respectively). These correlations supported some previous data [ 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ] concerning the regulatory effects of amino acid levels on the activity of some enzymes.…”

Section: Resultssupporting

confidence: 91%

“…According to the authors [ 31 ], this is of great importance in selection and breeding work. Moreover, these correlations are recommended for application in creative selection of the highly productive herds of dairy goats [ 25 , 31 , 32 , 33 ]. For example, the authors [ 33 ] found that “hematological and biochemical parameters were widely correlated with animal health biomarkers in various pathologies” [ 33 ].…”

Section: Introductionmentioning

confidence: 99%

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Correlations between the Major Amino Acids and Biochemical Blood Parameters of Pigs at Controlled Fattening Duration

2022

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Analytical control of protein and amino acid (AA) contents of animal tissues is an important problem in the fundamental and applied aspects. The aims of the work were the following: to measure the pig blood AAs; and to establish the correlations between AAs and biochemical parameters in dependence on the pig fattening duration. All 80 animals were divided onto 4 animal groups: 65, 72, 82, and 90 fattening days. The correlations between AAs and the total protein or its fractions (TP&F), nitrogen metabolites, carbohydrates, lipids, some enzymes in the pig blood for each of these animal groups obtained for the first time. The authors established the following total amounts of correlation coefficients (with reasonable p-values) in each of the group separately: group 1, 1* (p < 0.05); group 2, 0; group 3, 28* (p < 0.05) and 9** (p < 0.01); group 4, 28* (p < 0.05) and 25** (p < 0.01). Thus, about 82–90 days (groups 3 and 4) can be the optimal for the pig fattening, based on the correlation analysis for the numerous data of major AA and biochemical parameters of pig blood. These results can be useful for animal health monitoring and husbandry.

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Section: Resultssupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Correlations between the Major Amino Acids and Biochemical Blood Parameters of Pigs at Controlled Fattening Duration

2022

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“…This suggests that dopamine may be less affected in PKU patients or mice than currently believed. 63) Another study was conducted to determine the added/protective effect of LNAA supplementation to a less severe versus severe Phe-restricted diet on plasma and brain AA and neurotransmitter concentrations in adult PKU mice. This was in response to the fact that many adult patients with PKU do not meet the terms of the strict dietary restrictions.…”

Section: Large Neutral Amino Acidsmentioning

confidence: 99%

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

Keskin¹,

Şahin²,

Capasso³

et al. 2023

Clin Exp Pediatr

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Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12 th chromosome. Defective PAH activity ultimately leads to increased phenylalanine (Phe) blood concentrations (hyperphenylalaninemia) that harm the brain. The primary purpose of PKU treatment is to maintain the blood Phe level to prevent certain undesired effects. Hence, lifelong medical nutrition therapy is recommended for these patients.The usefulness of natural protein sources may be limited, as they are based on individual Phe tolerance, and a patient's daily protein requirements are supported by Phe-free amino acid mixtures. A few PKU treatment centers recently started using supplemental casein glycomacropeptide, pegvaliase, or large neutral amino acids, and some patients are treated by responding to tetrahydrobiopterin, which works as a pharmaceutical chaperone (prescribed as sapropterin dihydrochloride). This review discusses the efficacy and safety considerations of basic medical nutrition approaches and new-generation protein substitutes that are used to treat PKU.

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“…Furthermore, excess Phe levels can reduce the activity of some key enzyme systems and affect the glutamatergic neurotransmission leading to cognitive impairment. 4…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, excess Phe levels can reduce the activity of some key enzyme systems and affect the glutamatergic neurotransmission leading to cognitive impairment. 4 Early neuropsychological evaluation is necessary to confirm a good metabolic control and to prevent progressive neurological damage. PKU patients with a poor dietary control may suffer from relevant neurocognitive impairment, increased incidence of mood disorders (depression or anxiety), disruption of social interaction (relationships at school or work), and difficulties in paying attention or concentrating.…”

Section: Introductionmentioning

confidence: 99%

The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations

Costa-Lathan

Vazquez-Agra

Marques-Afonso

et al. 2023

Journal of Investigative Medicine

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We aimed to evaluate the role of plasma phenylalanine (Phe) levels and its fluctuations in some neurocognitive domains and brain magnetic resonance imaging (MRI) findings in adult patients with phenylketonuria (PKU). It was an observational study that included patients older than 18 years with early-treated classical PKU. Plasma Phe levels were measured every other month throughout 2 years and predictor variables were the mean, maximum (max), minimum (min), range (min–max), and plasma Phe levels at the time of cognitive testing. Patients were evaluated for executive function, processing speed, visual attention, and fluid cognitive abilities using the Trail Making Test (TMT) and for the presence of brain MRI abnormalities. In all, 22 patients with a mean age of 34 years were included, of which 18 (81%) were women. Patients with higher range and maximum Phe levels had a poorer time-based performance on TMT form A and form B. Patients with brain MRI abnormalities had higher range, maximum, and mean Phe levels. Range of Phe levels showed a good performance for MRI abnormalities (area under the curve (AUC): 0.881, standard error (SE): 0.095, 95% CI: 0.695–0.999, p = 0.044) and for the poorest time-based performances on TMT form A (AUC: 0.822, SE: 0.092, 95% CI: 0.641–0.999, p = 0.024) and B (AUC: 0.816, SE: 0.094, 95% CI: 0.632–0.999, p = 0.021). Greater Phe variability may have a negative impact on some neurocognitive domains and could be related to the severity of brain structural damage in adult patients with PKU.

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Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse

Cited by 13 publications

References 46 publications

Correlations between the Major Amino Acids and Biochemical Blood Parameters of Pigs at Controlled Fattening Duration

Correlations between the Major Amino Acids and Biochemical Blood Parameters of Pigs at Controlled Fattening Duration

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations

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