A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease.
- Elisa Mitri,
- Lia Millucci,
- Lucia Merolle,
- Giulia Bernardini,
- Lisa Vaccari,
- Alessandra Gianoncelli,
- Annalisa Santucci
Biochim Biophys Acta 2017 Feb 9. Epub 2017 Feb 9.
Dipartimento di Biotecnologie Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100 Siena, Italy. Electronic address:
Background: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, leading to a severe arthropathy. Secondary amyloidosis has been also unequivocally assessed as a comorbidity of AKU arthropathy. Read More