Hereditary fructose intolerance in a patient with phenylketonuria

T Coşkun1, I Ozalp, G Tekinalp

  • 1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.

Insights

This report details a rare case of a 3-year-old girl diagnosed with both phenylketonuria (PKU) and hereditary fructose intolerance (HFI). The co-occurrence of these two distinct metabolic disorders is considered coincidental due to low statistical probability.

Area of Science:

  • Medical Genetics
  • Inborn Errors of Metabolism
  • Pediatric Medicine

Background:

  • Classical phenylketonuria (PKU) and hereditary fructose intolerance (HFI) are distinct autosomal recessive metabolic disorders.
  • Both conditions require specific dietary management to prevent severe health complications.

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