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A Chinese classic phenylketonuria manifested as autism
1Department of Psychiatry, Veterans' General Hospital, Taipei, Taiwan, Republic of China.
Summary
Autism-like symptoms in children may indicate phenylketonuria, a treatable metabolic disorder. Early investigation is crucial, particularly when newborn screening for metabolic diseases is unavailable.
Area of Science:
- Biochemistry
- Pediatrics
- Genetics
Background:
- Autism Spectrum Disorder (ASD) is a neurodevelopmental condition.
- Phenylketonuria (PKU) is an inborn error of metabolism.
- Neonatal screening for metabolic diseases is not universally established.
Observation:
- A 12-year-old Chinese boy presented with symptoms initially diagnosed as infantile autism.
- The patient's condition was later confirmed to be classic phenylketonuria during adolescence.
Findings:
- Classic phenylketonuria can manifest with autism-like symptoms.
- Delayed diagnosis of PKU can occur in the absence of established neonatal screening programs.
Implications:
- Investigating phenylketonuria is recommended for children presenting with apparent autism.
- This approach is particularly important in regions lacking comprehensive newborn metabolic disease screening.
- Early diagnosis and management of PKU can prevent severe neurodevelopmental outcomes.