Alkaptonuria and Ochronosis

• Corporate Author: SpringerLink (Online service)
• Other Authors: Rovenský, Jozef (Editor), Urbánek, Tibor (Editor), Oľga, Boldišová (Editor), Gallagher, James A. (Editor)
• Format: Electronic eBook
• Language: English
• Published: Cham : Springer International Publishing : Imprint: Springer, 2015.
• Subjects: Medicine.; Molecular biology.; Dermatology.; Respiratory organs > Diseases.; Rheumatology.; Otorhinolaryngology.; Pathology.; Medicine & Public Health.; Pneumology/Respiratory System.; Molecular Medicine.

This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral orga...

Table of Contents:

• Introduction
• Alkaptonuria and Ochronosis
• History
• Metabolism of Aromatic Amino Acids
• Tyrosine Metabolism Disorders
• Detection of Homogentisic Acid in Plasma and Urine
• Alkaptonuria Genetics
• Experimental Alkaptonuria in Animals
• Experimental Models of Alkaptonuria and Ochronosis
• Ochronotic Arthropathy
• Clinical Manifestation of Ochronotic Arthropathy in the Spine
• Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Spine
• Clinical Manifestation of Ochronotic Arthropathy in the Peripheral Joints
• Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in the Romani Community
• Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of the Peripheral Joints
• Manifestations of Alkaptonuric Ochronosis in the Eye
• Symptoms of Alkaptonuria and Ochronosis in the Ear
• Manifestations of Alkaptonuria and Ochronosis in the Visceral Organs
• Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract
• Pathological Anatomy and Histology of Ochronosis
• Cellular and Molecular Patholgenesis of Ochronosis
• Picture of Synovial Effusion in Ochronosis
• Coincidence of Alkaptonuric Ochronosis with Other Diseases
• Differential Diagnosis of the Disease
• Sine Syndromes in Alkaptonuria
• History of Nitisinone (NTBC)
• Case Reports
• References.