3 Αποτελέσματα
Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase (alkaptonuria). Ultimately, this enzyme deficiency enables homogentisic acid to accumulate, become polymerized, and be systemically deposited within various tissues of the
Cardiovascular disease is a less-well appreciated aspect of alkaptonuria. A 69-year-old man presented with shortness of breath and exertional chest pain. He had a previous diagnosis of alkaptonuria (endogenous ochronosis), confirmed on the basis of urine coloration, skin pigmentation and ochronotic
Cervical bony outgrowths or osteophytes are common and usually asymptomatic. In some cases, they may be associated with dysphagia, dysphonia, dyspnea and pulmonary aspiration. The most common causes of cervical osteophytes are osteoarthritis, ankylosing spondylitis and ankylosing hyperostosis or