[Diagnostic value of the determination of hyperphenylalaninemia in the newborn]

Related Experiment Video

Updated: Jun 20, 2026

Biochemical Measurement of Neonatal Hypoxia
13:13

Biochemical Measurement of Neonatal Hypoxia

Published on: August 24, 2011

Ia S Guseĭnli, T A Askerova

    Klinicheskaia Laboratornaia Diagnostika
    |September 1, 2009
    PubMed

    Insights

    High blood phenylalanine levels were detected in nearly half of newborn infants, with some developing psychoneurological disorders and other health issues like anemia and rickets.

    Area of Science:

    • Biochemistry
    • Neonatal Medicine
    • Pediatric Neurology

    Context:

    • Newborn screening is crucial for early detection of metabolic disorders.
    • Hyperphenylalaninemia (HPA) is a condition requiring timely intervention.
    • Understanding the long-term effects of HPA in infants is vital for developmental outcomes.

    Purpose:

    • To determine the prevalence of elevated blood phenylalanine levels in a cohort of newborn infants.
    • To assess the association between hyperphenylalaninemia and psychoneurological disorders in early childhood.
    • To investigate the co-occurrence of other health conditions, such as anemia, rickets, and atopic dermatitis, in infants with HPA.

    Summary:

    • A blood enzyme immunoassay identified elevated phenylalanine in 46.7% of 90 newborns.
    • Follow-up examinations at 3 and 6 months revealed that 10 infants with HPA were diagnosed with psychoneurological disorders, including neuroreflex excitability, convulsions, motor dysfunction, and mental retardation.
    • Infants with HPA exhibited a statistically significant higher prevalence of anemia, rickets, atopic dermatitis, and hypotrophy compared to controls.

    Impact:

    • Highlights the significant prevalence of elevated blood phenylalanine in newborns and its association with adverse neurodevelopmental outcomes.
    • Underscores the importance of early detection and management of hyperphenylalaninemia to mitigate associated health risks.
    • Provides evidence for the increased risk of comorbidities in infants with HPA, necessitating comprehensive pediatric care.

    More Related Videos

    A Convenient Method for Extraction and Analysis with High-Pressure Liquid Chromatography of Catecholamine Neurotransmitters and Their Metabolites13:35

    A Convenient Method for Extraction and Analysis with High-Pressure Liquid Chromatography of Catecholamine Neurotransmitters and Their Metabolites

    Published on: March 1, 2018

    One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure09:28

    One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

    Published on: June 25, 2010

    Related Concept Videos

    Inborn Errors of Metabolism01:20

    Inborn Errors of Metabolism

    Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
    Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

    Pharmacokinetics in Pediatric Patients: Drug Metabolism

    In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
    Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

    Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

    In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess the...
    Pharmacokinetics in Pediatric Patients: Drug Distribution01:17

    Pharmacokinetics in Pediatric Patients: Drug Distribution

    Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight, compared...