The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.
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DOI: 10.1002/jimd.12600
Abstract: BACKGROUND Strict metabolic control with dietary treatment during pregnancy is essential for women with phenylketonuria (PKU), as elevated levels of phenylalanine (Phe) are toxic to the developing fetus. Maternal delay in achievement of the recommended… read more here.
Keywords: phe; development; phe levels; birth weight ... See more keywords
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU‐MOMs sub‐registries
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DOI: 10.1002/jimd.12724
Abstract: Infants born to mothers with phenylketonuria (PKU) may develop congenital abnormalities because of elevated phenylalanine (Phe) levels in the mother during pregnancy. Maintenance of blood Phe levels between 120 and 360 μmol/L reduces risks of birth… read more here.
Keywords: pku; pregnancy; blood phe; safety ... See more keywords
Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study
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DOI: 10.1002/mbo3.70148
Abstract: The specific members of the gut microbiota linked to phenylketonuria remain to be identified. This study aimed to assess the association between gut microbiota on phenylalanine (Phe) levels using a two‐sample Mendelian randomization (MR) approach.… read more here.
Keywords: gut microbiota; phe levels; gut; relationship ... See more keywords
The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations
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DOI: 10.1177/10815589221143485
Abstract: 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… read more here.
Keywords: adult patients; phe; role; phe levels ... See more keywords
Genotype–Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up
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DOI: 10.3390/nu17030379
Abstract: Background: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications.… read more here.
Keywords: newborn screening; pku; phe; phe levels ... See more keywords
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring
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DOI: 10.3390/nu17172892
Abstract: Background: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications.… read more here.
Keywords: dihydrochloride responsiveness; phe; monitoring; phe levels ... See more keywords