Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. For unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and subjective symptoms develop. In order to complement description of the structural changes in alkaptonuria with measures of movement function, clinica...

background: alkaptonuria (aku) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (hgd). the features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. in this paper, we present a case of alkaptonuria in a 54 year old woman in tehran, iran. case presentation: a 54 year old woman ...

a 2-year-old boy was born at term of healthy, non-consanguineous iranian parents. his mother attended in the clinic with the history of sometimes discoloration of diapers after passing urine. she noticed that first at the age of one month with intensified in recent months. his physical examination and growth parameters were normal. his mother denied taking any medication (sorbitol, nitrofuranto...

Alkaptonuria (AKU) is a rare inborn metabolic disease characterized by accumulation of homogentisic acid (HGA). Excretion of HGA in urine causes darkening of urine and its deposition in connective tissues causes dark pigmentation (ochronosis), early degeneration of articular cartilage, weakening of the tendons, and subsequent rupture. In this case report, we present a rare case of a patient pre...

Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He al...

INTRODUCTION Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease. CASE PRESENTATION We present the case of a 68-year-old Caucasian man with alkaptonuria-associated degenerative valvular defects with aortic, mitral and tricuspid valve insuff...