Related Experiment Video

Updated: Oct 4, 2026

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis
05:52

Handwriting Analysis Indicates Spontaneous Dyskinesias in Neuroleptic Naïve Adolescents at High Risk for Psychosis

Published on: November 21, 2013

Psychiatric diagnosis and behavioral characteristics of phenylketonuric children

G M Realmuto, B D Garfinkel, M Tuchman

    The Journal of Nervous and Mental Disease
    |September 1, 1986
    PubMed

    Insights

    Phenylalanine loading in children with phenylketonuria did not significantly impact cognitive performance. However, psychiatric disorders, including attention deficit disorder (ADD), were prevalent in the study group.

    Area of Science:

    • Neuroscience
    • Metabolic Disorders
    • Child Psychiatry

    Background:

    • Phenylketonuria (PKU) is a genetic disorder requiring strict dietary management.
    • The impact of phenylalanine levels on cognitive and psychiatric function in treated PKU patients is not fully understood.
    • Previous research suggests potential links between metabolic control and behavioral outcomes in PKU.

    Purpose of the Study:

    • To assess the behavioral effects of acute phenylalanine loading in children with phenylketonuria.
    • To evaluate the psychiatric characteristics of children with phenylketonuria on a low-phenylalanine diet.
    • To investigate the relationship between phenylalanine levels and performance on a Continuous Performance Task (CPT).

    Main Methods:

    • A double-blind, placebo-controlled study involving 13 normal-IQ children with phenylketonuria.
    • Acute loading with either phenylalanine or placebo, followed by hourly monitoring of behavioral and metabolic variables for five hours.
    • Assessment of cognitive performance using a standardized Continuous Performance Task (CPT) and psychiatric evaluation through structured interviews.

    Main Results:

    • Phenylalanine loading resulted in a nonsignificant decrease in performance on the CPT compared to placebo.
    • Six out of 13 children exhibited psychiatric disorders.
    • Three children currently met criteria for attention deficit disorder (ADD), with an additional six having a past diagnosis of ADD.

    Conclusions:

    • Acute phenylalanine loading does not appear to significantly impair cognitive function in treated phenylketonuric children.
    • A notable prevalence of psychiatric disorders, particularly attention deficit disorder (ADD), exists in this cohort of phenylketonuric children.
    • Further research is warranted to explore the underlying mechanisms of psychiatric comorbidities in phenylketonuria.

    More Related Videos

    A Computer-Based Platform for Aiding Clinicians in Eating Disorder Analysis and Diagnosis04:19

    A Computer-Based Platform for Aiding Clinicians in Eating Disorder Analysis and Diagnosis

    Published on: May 10, 2022

    Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 105:44

    Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1

    Published on: May 17, 2024

    Related Concept Videos

    Pedigree Analysis02:21

    Pedigree Analysis

    A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
    Overview of Protein Metabolism01:21

    Overview of Protein Metabolism

    Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
    Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
    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...
    Attention-Deficit/Hyperactivity Disorder01:30

    Attention-Deficit/Hyperactivity Disorder

    Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
    Diagnostic Criteria and Symptoms
    To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
    Conduct Disorder01:28

    Conduct Disorder

    Conduct disorder is a complex mental health diagnosis characterized by a repetitive and persistent pattern of behavior that violates societal norms, the rights of others, or age-appropriate rules. The diagnostic criteria for conduct disorder require the presence of at least three problematic behaviors within the past 12 months, with at least one occurring in the past six months. These behaviors are grouped into four categories: aggression toward people and animals; destruction of property;...