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Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal

C Shaw-Smith1, S L Hogg, R Reading

  • 1Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK. charles.shaw-smith@addenbrookes.nhs.uk

Child: Care, Health and Development
|August 24, 2004
PubMed

Insights

Phenylketonuria (PKU) can impact children even with newborn screening. Maternal PKU should be considered in cases of recurrent cognitive impairment, especially if the mother predates universal screening.

Area of Science:

  • Medical Genetics
  • Developmental Pediatrics

Background:

  • Universal newborn screening for phenylketonuria (PKU) began in the 1960s, significantly reducing learning disabilities. However, PKU's impact may persist in undiagnosed cases. This condition is treatable when identified early.

Observation:

  • A woman born before widespread PKU screening was diagnosed with the condition later in life. Her elevated phenylalanine levels were toxic. She had three sons, all exhibiting learning disabilities attributed to in-utero phenylalanine exposure.

Findings:

  • The woman's previously undiagnosed phenylketonuria (PKU) led to intrauterine exposure of her three sons to toxic phenylalanine levels. This resulted in significant learning disabilities in all three children. None presented with microcephaly, a potential diagnostic indicator.

Implications:

  • Maternal PKU should be suspected in families with recurrent cognitive impairment, especially when the mother was born before the era of neonatal PKU screening. Early diagnosis and management of maternal PKU are crucial to prevent developmental issues in offspring.

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