History and admission findings: Phenylketonuria is the most common genetic disease in amino acid metabolism. We report the case of a 22-year old patient with phenylketonuria and psychological symptoms. After early treatment, phenylalanine levels had been controlled and were within target area.
Investigations: Clinical interview and psychometrics showed atypical eating disorder and anxiety disorder.
Diagnosis, treatment and course: Possible toxic effects and psychological factors may play a role in pathogenesis.
Conclusions: Most likely the frequency of eating disorders and anxiety disorders in phenylketonuria is underestimated.
© Georg Thieme Verlag KG Stuttgart · New York.