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Attention Deficit Disorder with Hyperactivity Symptoms in Early-Treated Phenylketonuria Patients

Mayara Thays Beckhauser1, Marcella Beghini Mendes Vieira2, Betine Moehlecke Iser2

  • 1Department of Neurology- Hospital Santa Isabel - Blumenau - Santa Catarina- Brazil.

Iranian Journal of Child Neurology
|February 6, 2020
PubMed

Insights

Early-treated phenylketonuria (PKU) patients show a high prevalence of Attention Deficit Disorder with Hyperactivity (ADHD) symptoms. This suggests a potential link between PKU and ADHD, possibly involving the dopamine pathway.

Area of Science:

  • Neurodevelopmental disorders
  • Metabolic disorders

Background:

  • Phenylketonuria (PKU) is a genetic metabolic disorder requiring early treatment to prevent severe neurological impairment.
  • Attention Deficit Disorder with Hyperactivity (ADHD) is a common neurodevelopmental disorder characterized by inattention and/or hyperactivity-impulsivity.

Purpose of the Study:

  • To evaluate the prevalence of ADHD symptoms in early-treated PKU patients in Santa Catarina, Brazil.
  • To explore potential connections between PKU and ADHD.

Main Methods:

  • A cohort of 34 patients aged 6-18 years with early-treated PKU (treatment initiated before 60 days, phenylalanine < 6 mg/dL) was assessed.
  • Sociodemographic, gestational, and clinical data were collected via questionnaire.
  • ADHD symptoms were evaluated using the Swanson, Nolan and Pelham Questionnaire (SNAP-IV).

Main Results:

  • 38% of the 34 evaluated PKU patients met diagnostic criteria for ADHD.
  • Specific presentations included inattentive type (2 patients), hyperactive/impulsive type (6 patients), and oppositional defiant disorder type (1 patient).
  • The study population was predominantly male (53%) and white (94%), with a mean age of 12 years, and 15% were premature.

Conclusions:

  • A significant proportion of early-treated PKU patients exhibit ADHD symptoms, despite consistent treatment.
  • The findings suggest a possible pathophysiological link between PKU and ADHD, potentially mediated by the dopamine metabolic pathway.
Abstract

Keywords:
Attention DeficitDisorder with HyperactivityPhenylalaninePhenylketonuria

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