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A Chinese classic phenylketonuria manifested as autism
1Department of Psychiatry, Veterans' General Hospital, Taipei, Taiwan, Republic of China.
Insights
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.
Abstract:
A 12-year-old Chinese boy had a diagnosis of infantile autism at infancy that was finally confirmed as classic phenylketonuria at adolescence. This treatable inborn metabolic disease should be investigated in cases of apparent autism, especially where mass neonatal screening of inborn metabolic diseases has not been established.