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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
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
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
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
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
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 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
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
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
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
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
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
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
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
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