Article
Co-Occurrence of Two Rare Diseases: A Child with Phenylketonuria and <italic>WNT1</italic> Osteoporosis.
Hormone research in paediatrics - 1 Jan 2026
Doulgeraki Artemis, Wang Fan, Skouma Anastasia, Petropoulou Eleana, Tournis Symeon, Costantini Alice, Mäkitie Outi
Abstract excerpt
INTRODUCTION: Phenylketonuria (PKU), an inborn error of metabolism, when inadequately treated, may lead to nutritional deficits, which could affect bone health. This remains a controversial issue, given that in the majority of PKU cases, bone mineral density is within normal limits. On the other hand, WNT1 mutations are detrimental for bone, as they lead to primary osteoporosis. CASE PRESENTATION: We present an...
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