S Rubin, A L Le Piffer, M B Rougier, M N Delyfer, J F Korobelnik, I Redonnet-Vernhet, C Marchal, C Goizet, S Mesli, C Gonzalez, H Gin, V Rigalleau
Phenylketonuria (PKU) leads to severe neurological disorders in childhood, shunned by the diet. The long-term prognosis after diet diversification at adolescence is uncertain. We report a case of cortical blindness in a young patient regressive 1 month after the diet was resumed.Mr M., 25 years old, had PKU detected at birth. He maintained good serum levels of Phenylalanine (Phe) (120-300 μmol/L) during childhood and got a normal intellectual development. During adolescence he diversified his diet but maintained low meat and fish intake; Phe was ~1,200 μmol/L with no symptoms...
2013: JIMD Reports