Metabolism of Aromatic Amino Acids
Fig. 4.1 Conversion of phenylalanine to tyrosine 1. Fumarate and acetoacetate 2. Dopamine, adrenaline and noradrenaline 3. Melanins 4. Thyroid hormones – thyroxin and triiodothyronine Degradation…
Therapy of Alkaptonuria
© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_25 25. Therapy of Alkaptonuria Jozef Rovenský1, 2 and Tibor Urbánek1 (1) National Institute of Rheumatic Diseases, Piešťany, Slovakia (2) Institute of…
Coincidence of Alkaptonuric Ochronosis with Other Diseases
© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_23 23. Coincidence of Alkaptonuric Ochronosis with Other Diseases Jozef Rovenský1, 2 and Oľga Lukáčová1 (1) National Institute of Rheumatic Diseases, Piešťany,…
Differential Diagnosis of the Disease
© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_24 24. Differential Diagnosis of the Disease Jozef Rovenský1, 2 and Oľga Lukáčová1 (1) National Institute of Rheumatic Diseases, Piešťany, Slovakia (2)…
Rare Complications of Alkaptonuria: Haemolysis and Amyloidosis
© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_22 22. Rare Complications of Alkaptonuria: Haemolysis and Amyloidosis Richard Imrich1 , Jozef Rovenský2, 3 and Žofia Rádiková4 (1) Laboratory of Human Endocrinology, Center…
Picture of Synovial Effusion in Ochronosis
© Springer International Publishing Switzerland 2015Jozef Rovenský, Tibor Urbánek, Boldišová Oľga and James A. Gallagher (eds.)Alkaptonuria and Ochronosis10.1007/978-3-319-15108-3_21 21. Picture of Synovial Effusion in Ochronosis Tibor Urbánek1 and Jozef Rovenský1, 2 (1) National Institute of Rheumatic Diseases, Piešťany, Slovakia…
Clinical Manifestation of Alkaptonuria and Ochronosis
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…
Ochronotic Arthropathy
Anthropometric measurements Body height Height in sitting position Acromion-dactylion Trochanterion Gender Males Females Males Females Males Females Values in healthy people (cm) 171.4 157.1 90.6
Experimental Alkaptonuria in Animals
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.,…
Genetics of Alkaptonuria
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…
