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.
Abstract:
Classical phenylketonuria (PKU) and hereditary fructose intolerance (HFI) are two inborn errors of metabolism that have an autosomal recessive mode of inheritance. In this paper, we described a 3-year-old girl with PKU and HFI. The occurrence of these two defects in the same patient is thought to be fortuitous and not genetically related since this is the first reported case and the statistical probability of such an occurrence is very low.
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