Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, has been associated with an increased risk of renal impairment, the reason for which is not fully understood. We report the case of a 33-year-old female patient diagnosed with PKU in adulthood after suspicion of the disease in her daughter. The diagnostic approach revealed proteinuria, and minimal change disease (MCD) was identified. Therapeutic measures and follow-up are discussed. The possible link between these two disorders is interesting. Attenuated developmental delay of untreated PKU could be explained by the decreased accumulation of phenylalanine secondary to proteinuria. On the other hand, MCD may be a possible, although as yet unreported, pathophysiological mechanism explaining the renal repercussions that have been found in adult PKU patients, who should be screened for proteinuria.
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Issue: 2020: Vol 7 No 10 (view)