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A late-diagnosed phenylketonuria case presenting with autism spectrum disorder in early childhood

Betül Mazlum1, Banu Anlar2, H Serap Kalkanoğlu-Sivri3

  • 1Department of Neuroscience, İstanbul University, Experimental Medicine Research Institute, İstanbul, Turkey.

The Turkish Journal of Pediatrics
|March 8, 2017
PubMed

Insights

Phenylketonuria (PKU), an inherited metabolic disorder, can present with autism symptoms. Early diagnosis and treatment are crucial to prevent severe brain damage in children with PKU.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Neurodevelopmental Disorders

Background:

  • Phenylketonuria (PKU) is a common autosomal recessive disorder in Turkey.
  • Untreated PKU can lead to severe neurological impairment, including autism spectrum disorder (ASD) in some cases.

Observation:

  • A case of a three-year-old boy presenting with autism symptoms who was diagnosed with PKU is detailed.
  • This case highlights the potential for metabolic disorders like PKU to be missed in children with autism, especially with widespread newborn screening.

Findings:

  • The study discusses potential pathogenetic mechanisms linking PKU to autistic symptoms.
  • It emphasizes that even with newborn screening, some PKU cases might be overlooked due to incomplete screening coverage or pre-test dietary factors.

Implications:

  • Clinicians should consider treatable metabolic disorders, such as PKU, in the differential diagnosis of autism.
  • This underscores the importance of considering metabolic causes in children with unexplained neurological symptoms, even when seemingly unlikely.

Keywords:
autismexcitotoxicityglutamatephenylketonuria

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