Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood

Abstract

Phenylketonuria (PKU) is an inherited autosomal recessive disorder characterized by hyperphenyalaninemia resulting from deficiency of hepatic phenylalanine hydroxylase (PAH), which converts phenylalanine into tyrosine. More than 500 mutations have been reported in the PAH gene, which is located on p12q24.1 [1]. We here report a case of PKU revealed by tetraparesis, cognitive impairment, and an unusual body odour in an adult.