Highest Plasma Phenylalanine Levels in (Very) Premature Infants on Intravenous Feeding; A Need for Concern

Cortés‐Castell, Ernesto; Sánchez-González, Pablo; Palazón‐Bru, Antonio; Bosch-Giménez, Vicente María; Manero-Soler, Herminia; Juste-Ruiz, Mercedes; Baeza, María Mercedes Rizo; Gil-Guillén, Vicente Francisco

doi:10.1371/journal.pone.0138532

Cited by 2 publications

(2 citation statements)

References 23 publications

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“…Parental nutrition is a solution rich in AAs, thus newborns on TPN may show multiple minor AAs abnormalities at NBS. Higher Phe levels are reported in very premature infants on TPN [11]. In our experience, we observed alterations in AAs levels, such as Arginine, Methionine, branched chain AAs, Phe, and Tyr.…”

Section: Discussionsupporting

confidence: 58%

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

et al. 2020

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Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy. In Italy, newborn screening (NBS) by MS/MS allows the diagnostic suspicion of PKU and its variants (Hyperphenylalaninemia (HPA), Tetrahydrobiopterin (BH4) synthesis deficiency, and Tetrahydrobiopterin (BH4) recycling deficiency) through the quantification of Phenylalanine (Phe) and the Phenylalanine/Tyrosine (Phe/Tyr) ratio in dried blood Spot (DBS) samples. Here, we report a case of an HPA whose suspicion was possible with expanded NBS, even if the normal-weight newborn was in total parenteral nutrition (TPN). It is known that TPN may present metabolic alterations, mainly for amino acids at NBS in MS/MS, frequently causing false positives. Actually, TPN is considered a special protocol in NBS, requiring several sample collections. In particular, a DBS sample is required before TPN, at basal time point (48 h after birth) and 72 h after the end of the procedure. In the case we report, even if the first DBS sample (before TPN) resulted negative, the repeated NBS tests revealed increased levels of Phe and dramatically high Phe/Tyr ratio. Thus, the newborn was recalled, and the NBS test was repeated several times before that HPA suspicion was confirmed by other specific biochemical tests. This case highlights the importance of Phe/Tyr ratio, only detectable by MS/MS analysis, in supporting the diagnostic suspicion during amino acids administration in the neonatal period.

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Section: Discussionsupporting

confidence: 58%

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

et al. 2020

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“…The infant’s feeding can, in turn, alter the metabolite profile. In fact, nutritional supports rich in amino acids can cause false positives: total parenteral nutrition is often able to return false alterations to mimic congenital hyperphenylalaninemia [ 11 , 12 ] or other AA.…”

Section: Introductionmentioning

confidence: 99%

Impact of Maternal Lifestyle and Dietary Habits during Pregnancy on Newborn Metabolic Profile

et al. 2023

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Expanded newborn screening (NBS) is a preventive program that allows for the early identification of over 40 congenital endocrine-metabolic diseases by analyzing dried blood spot samples collected from the newborn’s heel within 48–72 h of birth. The determination of amino acids and acyl-carnitines by Flow Injection Analysis Tandem Mass Spectrometry (FIA-MS/MS) may also highlight metabolic alterations resulting from external factors, such as maternal nutrition. In the present study, we developed a questionnaire to investigate the eating habits of 109 women during pregnancy and statistically correlated the results from the investigation on dietary habits with the data obtained by the NBS laboratory of Abruzzo region (Italy). Parameters such as smoking, physical activity, and the intake of iodized salt, drugs, and supplements were analyzed. This study aimed to highlight how maternal lifestyle, diet, and drug intake during pregnancy may affect the neonatal metabolic profile, possibly generating false positive or false negative results in the NBS test. The results pointed out how the knowledge of maternal nutrition and lifestyle may also be precious in preventing misinterpretations of the neonatal metabolic profile, thereby reducing unnecessary stress for newborns and their parents and limiting costs for the health system.

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Highest Plasma Phenylalanine Levels in (Very) Premature Infants on Intravenous Feeding; A Need for Concern

Cited by 2 publications

References 23 publications

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

Impact of Maternal Lifestyle and Dietary Habits during Pregnancy on Newborn Metabolic Profile

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