Management of three preterm infants with phenylketonuria

Weiß, Katharina; Lotz-Havla, Amelie S.; Dokoupil, Katharina; Maier, Esther M.

doi:10.1016/j.nut.2019.110619

Cited by 5 publications

(5 citation statements)

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“…The length of stay for our patients, from birth to discharge, was 70, 90 and 133 days. These values were similar to the mean lengths of stay that were observed in a large cohort of extremely preterm babies born between 24 and 28 weeks of gestation 6,17 …”

Section: Discussionsupporting

confidence: 86%

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Extremely low birthweight neonates with phenylketonuria require special dietary management

et al. 2021

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Aim Extremely low birthweight (ELBW) neonates require a high protein intake, but this can be challenging in the very rare cases when they also have phenylketonuria (PKU). This is due to a lack of suitable parenteral nutrition or enteral formula. Our aim was to analyse tolerance to phenylalanine in these infants. Material There are approximately 110 000 children born in the Czech Republic each year. A neonatal screening programme from 2005 to 2020 found that 320 neonates had PKU, including 30 premature neonates with a birth weight of less than 2500 g. Results This study focused on three neonates who were born with ELBWs of 720, 740 and 950 g, respectively. Phenylalanine levels normalised in ELBW neonates with PKU within 1 week of the introduction of low‐phenylalanine parenteral or enteral nutrition. The tolerance to phenylalanine was very high (70–110 mg/kg) in the first months of life, due to a rapid weight gain, but significantly decreased during infancy. Conclusion Extremely low birthweight neonates with PKU need special dietary management. Regular assessments of phenylalanine are necessary during the first weeks of life to allow prompt dietary adjustments that reflect rapid weight gain and transitory high tolerance to phenylalanine.

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Section: Discussionsupporting

confidence: 86%

“…These values were similar to the mean lengths of stay that were observed in a large cohort of extremely preterm babies born between 24 and 28 weeks of gestation. 6,17…”

Section: Discussionmentioning

confidence: 99%

Extremely low birthweight neonates with phenylketonuria require special dietary management

et al. 2021

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“…Additionally, no case reports concerning EN for adults with PKU have been published to date. Only a few cases in pediatrics, most of them focused on preterm infants or low-weight newborns, are available [24][25][26]. It should be emphasized that none of these reports consider artificial nutrition via tube feeding in exclusivity.…”

Section: Discussionmentioning

confidence: 99%

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Pané,

Carrasco-Serrano,

Milad

et al. 2023

JCM

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Phenylketonuria (PKU) is the most frequent of the congenital errors of amino acid (AA) metabolism worldwide. It leads to the accumulation of the essential AA phenylalanine (Phe) and it is associated with severe neurological defects. The early diagnosis and treatment of this rare disease, achieved through newborn screening and low-Phe diet, has profoundly changed its clinical spectrum, resulting in normal cognitive development. We face the first generation of PKU patients perinatally diagnosed and treated who have reached adulthood, whose special needs must be addressed, including feeding through enteral nutrition (EN). However, recommendations regarding EN in PKU constitute a gap in the literature. Although protein substitutes for patients with PKU are offered in multiple forms (Phe-free L-amino acid or casein glycomacropeptide supplements), none of these commercial formulas ensures the whole provision of daily total energy and protein requirements, including a safe amount of Phe. Consequently, the combination of different products becomes necessary when artificial nutrition via tube feeding is required. Importantly, the composition of these specific formulas may result in physicochemical interactions when they are mixed with standard EN products, leading to enteral feeding tubes clogging, and also gastrointestinal concerns due to hyperosmolality. Herein, we present the first reported case of EN use in an adult patient with PKU, where the separate administration of protein substitutes and the other EN products avoided physicochemical interactions.

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“…al.;. Aunque, en prematuros recién nacidos no hay necesidad de aportar una dieta parenteral libre de PHE al tener una alta tolerancia a este AA en gran parte por su estado catabólico (Weiss, Lotz-Havla, Dokoupil & Maier;2020).…”

Section: Discussionunclassified

Manejo nutricional actual de la Phenylketonuria PKU en niños

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2020

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La fenilcetonuria es una enfermedad metabólica hereditaria que requiere de un tratamiento nutricional de por vida el cual pretende mantener los niveles de PHE en sangre bajos para evitar daño neurológico, pero además debe proveer un adecuado aporte de proteína y energía, así como mantener un adecuado estado nutricional desde el momento del diagnóstico (López-Mejía, Vergara-Vázquez & Guillén-López, 2019). Debido a esto, se pretendió evidenciar el tratamiento nutricional brindado a pacientes pediátricos con PKU según datos recientes sobre el tema con la presente revisión bibliográfica.

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Management of three preterm infants with phenylketonuria

Cited by 5 publications

References 10 publications

Extremely low birthweight neonates with phenylketonuria require special dietary management

Extremely low birthweight neonates with phenylketonuria require special dietary management

Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge—A Case Report

Manejo nutricional actual de la Phenylketonuria PKU en niños

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