A Case of Alkaptonuria Associated with Ochronosis and Purpuric Rashes
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Ochronosis as an unusual cause of valvular defect: a case report
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...
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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 ...
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Even though intervertebral disc degeneration can be found in the natural course of alkaptonuria, detection of the disease by black disc color change in a patient without any other presentation of alkaptonuria is an exceptionally rare condition. We have reported a very rare case of alkaptonuria presented with low back pain and steppage gait in a 51-year-old male with a complaint of chronic low...
متن کاملDoes Your Patient’s Urine Turns Dark? Alkaptonuria and Low Back Ache: A Literature Review
INTRODUCTION Alkaptonuria is a very rare inborn error of amino acid metabolism due to deficient homogentisic acid (HGA) oxidase enzyme leading to accumulation of HGA in plasma, cartilage, other tissues of human body and its excretion in urine. It has both systemic and peripheral signs and symptoms. Though low back is a common symptom of alkaptonuria but, in the absence of ochronosis it is rare....
متن کاملگزارش یک مورد اکرونوزیس آلکاپتونوریک
F Abbasi [1] , Ph.D S Naji [2] , Ph.D F Mirzatolui [3] , MD G Behjati [4] , Ph.D Received: 28 April, 2008 Accepted: 5 Nov, 2008 Abstract Alkaptonuria is a rare autosomal recessive disorder characterized by deficiency of homogentisic acid oxidase. This deficiency leads to accumulation of homogentisic acid in tissues and its urinary excretion and resulting in characteristic features like o...
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