Decade Total number of patients with alkaptonuria and ochronosis Number of patients with ochronosis Percentage of cases of alkaptonuria associated with ochronosis I 21 1 4.76 II 14 0 0…

Butts, J.S., Dunn, M.S., Hallman, L.F.: Studies in amino acid metabolism. Metabolism of D/’-phenylalanine and Di-tyrosine in a normal rat. J. Biol. Chem. 123, 711–718 (1938) Montagutelli, X., Lalouette, A.,…

Fig. 7.1 Distribution of AKU mutations in the HGD gene (Zat´ková 2011). 1–14 exons, Kb kilobase. Variants IVS9-56G>A** and IVS9-17G>A** were published as mutations, but (Vilboux et al. 2009) reported…

© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_6 6. Detection of Homogentisic Acid in Plasma and Urine Mária Stančíková1   and Jozef Rovenský1, 2   (1) National Institute of Rheumatic Diseases,…

Garrod, A.E.: Inborn errors of metabolism. Hodder and Stoughton, London (1909) Hüttl, S., Markovic, O., Siťaj, Š.: Hemarthrosis in ochronotic arthropathy. Z. Rheumaforsch. 25, 169–181 (1966)PubMed La Du, B.N., Zannoni,…

© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_1 1. Introduction Jozef Rovenský1, 2  

(1) 2nd Clinic of Internal Medicine, University Hospital, Hradec Kralove, Czech Republic   The very interesting topic of alkaptonuria including metabolism of proteins and particularly of aromatic amino acids has…

© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_5 5. Tyrosine Metabolism Disorders Jozef Rovenský1, 2   and Mária Stančíková1   (1) National Institute of Rheumatic Diseases, Piešťany, Slovakia (2) Institute of…