phenylketonurias/mučnina

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An Observational Study Evaluating the Introduction of a Prolonged-Release Protein Substitute to the Dietary Management of Children with Phenylketonuria

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Dietary restriction of phenylalanine combined with a protein substitute prevents intellectual disability in patients with phenylketonuria (PKU). However, current protein substitutes are associated with low adherence owing to unpalatability and burdensome administration regimens. This prospective,

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

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Background: Phenylketonuria (PKU) is characterized by a deficiency in phenylalanine hydroxylase (PAH) that may lead to elevated blood phenylalanine (Phe) and significant neurocognitive and neuropsychological comorbidities. Pegvaliase

Utilisation of amino acid mixtures in adolescents with phenylketonuria.

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The nutritional regimen of patients with phenylketonuria (PKU) comprises a diet of natural proteins and phenylalanine (Phe)-free amino acid (AA) mixture. The main daily protein requirement is covered by a Phe-free AA mixture. In an adult with PKU, the consumption of the daily AA requirement in one

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

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Maternal Phenylketonuria Syndrome (MPKU) can occur in infants born to mothers with PKU with poor metabolic control during pregnancy. Elevated phenylalanine (phe) acts as a teratogen to the developing fetus with consequences including intellectual disability, microcephaly, facial dysmorphism, growth

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