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Delayed diagnosis of phenylketonuria - a case report of two siblings

Deepa Narayanan1, Robert Barski, Mick J Henderson

  • 1Adult Inherited Metabolic Disease Clinic, St Luke's Hospital, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.

Annals of Clinical Biochemistry
|October 8, 2013
PubMed

Insights

Phenylketonuria (PKU), a metabolic disorder, can be diagnosed late in adulthood. Early screening is crucial, but this case shows PKU should be considered in adults with unexplained neurological issues.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Phenylketonuria (PKU) is an autosomal recessive metabolic disorder.
  • The UK National newborn screening program for PKU began in 1969.

Observation:

  • This report details two siblings with delayed PKU diagnosis.
  • The case highlights the possibility of late diagnosis in adults.

Findings:

  • PKU can manifest in adults with learning difficulties, seizures, and behavioral problems.
  • Delayed diagnosis can occur despite newborn screening programs.

Implications:

  • PKU should be a differential diagnosis in adults with unexplained neuropsychological symptoms.
  • Plasma and urine amino/organic acid analysis is recommended for adults with such manifestations.

Keywords:
Neurological disordersinborn errors of metabolismmass spectrometry

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