Erschienen in:
01.02.2010 | Letter to the editor
Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood
verfasst von:
Guillemette Jousserand, Jean-Christophe Antoine, Jean-Philippe Camdessanché
Erschienen in:
Journal of Neurology
|
Ausgabe 2/2010
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Excerpt
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. …