Hereditary fructose intolerance in a patient with phenylketonuria.
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.
Coşkun
T
T
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Ozalp
I
I
Tekinalp
G
G
D002675:Child, Preschool; D005260:Female; D005633:Fructose Intolerance / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D010661:Phenylketonurias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics