homogentisic acid/atrophy

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Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria.

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Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates. These aggregates cause severe complications mainly at the level of joints with extensive degradation of the

Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.

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Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a pigmentation called "ochronosis" and tissue

Characterization of the pigment from homogentisic acid and urine and tissue from an alkaptonuria patient.

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When urine samples from alkaptonuria patients are allowed to stand, they turn black, presumably owing to the oxidation of homogentisic acid to a melanin-like substance. We report the characterization of the pigments formed by polymerization of (a) the components in the urine from a patient with

[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

Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.

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Alkaptonuria (AKU) is a rare inherited disease resulting from a deficiency of the enzyme homogentisate 1,2-dioxygenase which leads to the accumulation of homogentisic acid (HGA). AKU is characterized by severe cartilage degeneration, similar to that observed in osteoarthritis. Previous studies

Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy.

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The surgical treatment of ochronotic arthropathy remains unclear. Although there is no absolute cure for ochronotic arthropathy, current management typically begins with conservative treatment. Total joint replacement may eventually be necessary for joints that become severely degenerative.

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

Alkaptonuria and renal failure: a case report.

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In alkaptonuria, the absence of homogentisic acid oxidase (HGO) results in the accumulation of homogentisic acid (HGA) in the body. Associated renal failure is rare and usually occurs in the later stages of the disease. We report a 33-year-old male who presented, initially, with renal failure, but

Degenerative arthritis of the knee secondary to ochronosis.

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Alkaptonuria is a rare disease in which a deficiency in the homogentisate 1, 2-dioxygenase enzyme results in a buildup of homogentisic acid. Ochronosis, the deposition of excess homogentisic acid in connective tissue, causes brownish-black pigmentation and weakening of the tissue ultimately

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.

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Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid. Deposition of excess homogentisic acid in different intra- and extra-articular structures with high content of connective tissue

Ochronosis: an unusual finding at aortic valve replacement.

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The condition known as ochronosis refers to the accumulation of oxidized homogentisic acid in the connective tissues of alkaptonuric patients. The diagnosis is usually made from the triad of degenerative arthritis, ochronotic connective tissue pigmentation and urine that turns dark brown or black on

Neglected Alkaptonuric Patient Presenting with Steppage Gait.

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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

Total hip replacement for an ochronotic patient: A technical trick.

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METHODS Male, 46 FINAL DIAGNOSIS: Akkaptonuria Symptoms: Hip pain Medication: - Clinical Procedure: Total hip replacement Specialty: Orthopedics and Traumatology. OBJECTIVE Unusual or unexpected effect of treatment. BACKGROUND Ochronosis is an inherited metabolic disease in which there is an

Blackish Pigmentation of the Aorta in Patient with Alkaptonuria and Heyde's Syndrome.

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Alkaptonuria is an autosomal recessive trait resulting in an error of aromatic amino acids metabolism. Heyde's syndrome is a condition clustering together aortic valve stenosis and gastrointestinal bleeding from colonic angiodysplasia. At present, there is no report describing the association of the

Ochronosis as Etiology of Requiring Total Knee Arthroplasty-A Case Series.

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Alkaptonuria is a rare hereditary metabolic disorder that leads to the accumulation of homogentisic acid accumulation and weakens the collagen, creating fissuring and articular cartilage degeneration. Therefore, we are reporting a multicenter case series of three patients (four arthroplasties) who

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