1/7. Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome.alkaptonuria is a rare metabolic disease in which homogentisic acid deposits occur in various body tissues. We present a case of alkaptonuria which resulted in aortic stenosis and coronary artery disease due to homogentisic acid deposition.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
2/7. alkaptonuria with lumbar disc herniation: a report of two cases.STUDY DESIGN: Two cases of lumbar disc herniation with alkaptonuria are presented. OBJECTIVES: To present a probable clinical course of lumbar disc herniation with alkaptonuria, a rare metabolic disease. SUMMARY OF BACKGROUND DATA: Although lumbar disc disease is a common clinical occurrence in alkaptonuria, lumbar disc surgery is needed rarely in this disease. A patient with alkaptonuria without ochronotic signs is also rarely seen. methods: The cause, clinical presentation, diagnostic techniques and treatment of alkaptonuria with lumbar disc disease are reviewed. RESULTS: The symptoms of the patients disappeared after surgery, and there were no symptoms on follow-up. CONCLUSION: alkaptonuria frequently occurs in association with lumbar disc disease. In patients with no other signs of alkaptonuria or ochronosis, early detection of the disease is important to treat involvement of other systems (e.g., cardiovascular and urinary).- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
3/7. alkaptonuria and lumbar disc herniation. Report of three cases.alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. alkaptonuria was diagnosed after discectomy. Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The symptoms in the three patients disappeared after surgery and no symptoms were demonstrated on follow-up examination.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
4/7. ochronosis and lumbar disc herniation.alkaptonuria is a rare, autosomal recessive metabolic disorder in which the homogentisic acid oxidase activity is absent. Its incidence is as low as 0.001%. ochronosis is the pigmentation of connective tissues and this pigmentation leads to degenerative changes in alkaptonuric patients.alkaptonuria most prominently involves the lumbar region, but lumbar disc herniation as the presenting feature of alkaptonuria is not common. Only a few patients required surgical intervention.Herewith we report an alkaptonuric patient, who was operated on for lumbar disc herniation. His discectomy material was black and the metabolic disorder was diagnosed retrospectively.This metabolic disease is often recognized on physical re-examination after the black disc material was seen during the operation. Therefore urinalysis for homogentisic acid should be performed in all patients with degenerative changes of the vertebral column. The results of disc surgery in this patient group is successful.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
5/7. Bilateral spontaneous rupture of the quadriceps tendon as an initial presentation of alkaptonuria--a case report.Unilateral rupture of the quadriceps tendon is not uncommon, but bilateral spontaneous quadriceps tendon rupture is a rare occurrence and is usually associated with some underlying predisposing condition. We describe a case of a previously healthy patient who presents with bilateral spontaneous rupture of both quadriceps tendon. Investigations revealed that he had underlying alkaptonuria which was previously undiagnosed. alkaptonuria is a rare inborn metabolic disease, which results in the derangement of homogentisic acid metabolism. Excessive accumulation of homogentisic acid is known to affect multiple organ systems, resulting in tendinopathy and arthropathy in the muscoskeletal system.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
6/7. Bilateral hip and bilateral knee arthroplasties in a patient with ochronotic arthropathy.alkaptonuria is a rare, autosomal-recessive, inborn, metabolic disease that causes ochronotic arthropathy leading to disabling arthritis. Few reports of arthroplasty in patients with this disease have been published, and none documents four total joint replacements in the same patient. This case report describes the history and findings in a 70-year-old man who underwent bilateral hip and knee total joint arthroplasties with significant improvement in pain and exercise tolerance. The metabolic and clinical aspects of alkaptonuria are also discussed.- - - - - - - - - - ranking = 1keywords = metabolic disease (Clic here for more details about this article) |
7/7. Ochronotic arthropathy: rapid destructive hip osteoarthritis associated with metabolic disease.ochronosis is a musculoskeletal manifestation of alkaptonuria, an inherited metabolic disorder associated with various systemic abnormalities related to the deposition of homogentisic acid pigment in connective tissues. This report describes a 58-year-old woman with ochronotic arthropathy who, in addition to the typical clinical features of the disorder, presented with rapidly progressive hip osteoarthritis. The destruction of the joint architecture and the severe functional impairment necessitated a total hip replacement which resulted in a satisfactory outcome.- - - - - - - - - - ranking = 4keywords = metabolic disease (Clic here for more details about this article) |