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ochronosis/oxidase
Il collegamento viene salvato negli appunti
Pagina 1 a partire dal 70 risultati
[Ochronosis: report of two familial cases].
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BACKGROUND
Ochronosis of alkaptonuria is a rare hereditary autosomal recessive disease in which there is an absence of homogentisic acid oxidase resulting in accumulation of homogentisic acid in tissues.
OBJECTIVE
To report a new case of alkaptonuria
METHODS
A 49-year-old man had been followed for 4
[Case report of a patient with ochronosis and arthroplasty of the hip and both knees].
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Alkaptonuria is a rare hereditary metabolic disorder characterised by absence of the enzyme homogentisic acid oxidase. As a result of this defect homogentisic acid accumulates and is excreted in the urine. The term ochronosis is used to describe bluish-black pigmentation of connective tissue.
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia.
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Ochronosis is a rare autosomal recessive metabolic disease caused by homogentisic acid oxidase enzyme deficiency. High homogentisic acid levels will eventually result in black deposits in skin, sclerae, connective tissues and urine (alkaptonuria). It can lead to early degeneration of connective
[Arthroplasty for the treatment of joint degeneration caused by ochronosis in two cases].
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Ochronosis is a rare metabolic disease caused by the deficiency of the homogentisic acid oxidase enzyme. With increasing age, accumulation of pigment deposits of homogentisic acid in the joint cartilage results in ochronotic osteoarthritis. We presented two female patients, with ages 55 and 60
A late and difficult diagnosis of ochronosis.
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Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. This causes the classic clinical triad: (1) homogentisic aciduria (urine blackens on standing when
Unrecognized ochronosis--a case report.
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Alkaptonuria is a rare metabolic disorder characterized by a deficiency of the homogentisic acid oxidase enzyme. The result is accumulation of homogentisic acid in collagenous structures throughout the body, especially in fibrous and cartilaginous tissue. This leads to gradual development of a
Aortic stenosis in cardiovascular ochronosis.
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Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients
Tyrosinase, could it be a missing link in ochronosis in alkaptonuria?
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The hypothesis that is proposed is that tyrosinase, an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal recessive condition first used by Archibald Garrod to describe the theory of "Inborn Errors of Metabolism." The disease results
Endogenous ochronosis with a fatal outcome.
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BACKGROUND
Endogenous ochronosis (EO) is an autosomal recessive inherited disorder where there is incomplete oxidation of tyrosine and phenylalanine due to a lack of the enzyme homogentisic acid oxidase.
OBJECTIVE
We report a singular observation of EO with a fatal outcome.
METHODS
We report the
Cerebro-spinal and renal ochronosis: A rare case report.
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Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report
Alkaptonuric ochronosis: report of two affected brothers.
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Alkaptonuric ochronosis is a rare inborn metabolic disorder. Because of the deficient activity of the enzyme homogentisic acid oxidase, homogentisic acid accumulates in plasma, is deposited in various tissues and is excreted in large amounts in urine. Dark brown discoloration of urine on exposure to
Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.
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Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. It is an autosomal recessive condition found in geographically isolated populations. The excess homogentisic acid deposits in collagenous structures, leading to unusual pigmentation of the skin overlying
Ochronosis with cardiovascular involvement: a case report.
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Ochronosis is a rare autosomal-recessive disease, characterized by increased homogentisic acid (HGA) and substrates due to deficiency of HGA oxidase. The most common clinical presentations are homogentisic aciduria, blue-black pigment accumulation in collagen tissues, large joint arthropathies and
Alkaptonuric ochronosis: a clinical study from Ardabil, Iran.
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OBJECTIVE
Ochronosis is a term used to describe pigment deposition that occurs in the connective tissues of patients with alkaptonuria, an autosomal recessive disorder that results from a deficiency of homogentisic acid oxidase. Brown or blue-gray discoloration of the skin may be seen on the
Ocular ochronosis from alkaptonuria.
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Alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent accumulation of homogentisic acid in collagenous tissues, such as the sclera, nose and ear lobes. The blue-black pigmentation
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