Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria

Lihi Adler-Abramovich, Lilach Vaks, Ohad Carny, Dorit Trudler, Andrea Magno, Amedeo Caflisch, Dan Frenkel, Ehud Gazit*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown mechanism. We demonstrate that at pathological concentrations, phenylalanine self-assembles into fibrils with amyloid-like morphology and well-ordered electron diffraction. These assemblies are specifically recognized by antibodies, show cytotoxicity that can be neutralized by the antibodies and are present in the hippocampus of model mice and in parietal cortex brain tissue from individuals with PKU. This is, to our knowledge, the first demonstration that a single amino acid can form amyloid-like deposits, suggesting a new amyloidosis-like etiology for PKU.

Original languageEnglish
Pages (from-to)701-706
Number of pages6
JournalNature Chemical Biology
Issue number8
StatePublished - Aug 2012


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