ochronosis/tyrosine

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Experimental ochronosis. Induction in rats by long-term feeding with L-tyrosine.

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On the ocular findings in ochronosis: a systematic review of literature.

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BACKGROUND Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of

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

Development of an in vitro model to investigate joint ochronosis in alkaptonuria.

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OBJECTIVE Alkaptonuria (AKU) is a genetic disorder caused by lack of the enzyme responsible for breaking down homogentisic acid (HGA), an intermediate in tyrosine metabolism. HGA is deposited as a polymer, termed ochronotic pigment, in collagenous tissues. Pigmentation is progressive over many

Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis.

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Alkaptonuria (AKU) is a rare, inherited disorder of tyrosine metabolism, where patients are unable to breakdown homogentisic acid (HGA), which increases systemically over time. It presents with a clinical triad of features; HGA in urine, ochronosis of collagenous tissues, and the

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

[Important bilateral corneal astigmatism in a case of ocular ochronosis].

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Ochronosis or alkaptonuria is a rare, autosomal recessive metabolic disease where the enzyme homogentisic acid 1,2-dioxygenase is missing. This enzyme is necessary in the oxidation of phenylalanine and tyrosine. As a result of this defect homogentisic acid, which is normally produced during the

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

Aortic valve ochronosis: a rare manifestation of alkaptonuria.

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Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta. A 65-year-old woman with alkaptonuric ochronosis and a history of four joint

[Severe osteoarthritic manifestations of ochronosis].

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The congenital form of ochronosis is a result of the rare autosomal recessive inherited metabolic disease alkaptonuria. The disruption of tyrosine metabolism based on a genetic defect in the enzyme homogentisate dioxygenase results in accumulation of homogentisic acid (HA) which is excreted in 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

[Anesthetic management of two patients with alkaptonuric ochronosis for total knee arthroplasty].

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The current case report describes two cases of alkaptonuric ochronosis for anesthetic management. Alkaptonuria is a rare genetic orphan disease of tyrosine metabolism characterized by an accumulation of homogentisic acid in cartilage and connective tissues. Patients present most commonly for

The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis.

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Alkaptonuria is rare genetic disorder of tyrosine metabolism manifesting with signs of tissue pigmentation, dark urine, and ochronotic arthropathies. Commonly undiscovered by late adulthood, alkaptonuria can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies, but

Alkaptonuric ochronosis and multiple intracranial aneurysms.

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Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta, though no cerebrovascular abnormalities have been reported. The authors report a

Erbium-doped yttrium aluminium garnet ablative laser treatment for endogenous ochronosis.

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Ochronosis is a rare disease characterised clinically by bluish-grey skin discolouration and histologically by yellow-brown pigment deposits in the dermis. It occurs in endogenous and exogenous forms. Endogenous ochronosis, also known as alkaptonuria, is an autosomal recessive disease of tyrosine

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