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The American Journal of Roentgenology,... Jul 1957
Topics: Ochronosis
PubMed: 13435399
DOI: No ID Found -
L'union Medicale Du Canada Jan 1948
Topics: Ochronosis
PubMed: 18903160
DOI: No ID Found -
The Journal of the Egyptian Medical... 1978
Topics: Child; Humans; Male; Ochronosis
PubMed: 262248
DOI: No ID Found -
Dermatology Online Journal Apr 2019Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. This...
Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. This disturbance causes an accumulation and increased renal excretion of homogentisic acid (AHG), which manifests as dark urine when it oxidizes on contact with air. Other clinical manifestations of OE are the result of the deposit of AHG in the form of ochronotic pigment at the level of collagen in the skin and cartilage, where it causes blue-gray cutaneous hyperpigmentation, degenerative arthropathy, valvular disease, and other multisystem effects. Despite the progressive and irreversible nature of OE and the lack of a curative treatment, the life expectancy is preserved. We report a new case of EO with cutaneous and joint involvement, in which a high clinical suspicion, confirmed by elevated AHG in urine was the key in the diagnosis.
Topics: Alkaptonuria; Female; Homogentisic Acid; Humans; Hyperpigmentation; Joint Diseases; Middle Aged; Ochronosis
PubMed: 31046911
DOI: No ID Found -
Clinical Medicine & Research Nov 2004Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in... (Review)
Review
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. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis. In this report, we describe a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages. She had severe arthropathy requiring total joint replacement in both of her knees and right hip. She also had severe aortic stenosis requiring valve replacement, and asymptomatic nephrolithiasis. She presented with a low trauma fracture of the distal femur despite two years of alendroate therapy. We review the etiology, pathogenesis, clinical presentation, diagnosis and treatment of alkaptonuric ochronosis. Early detection is important for prevention and treatment of multiple systems. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the long-term efficacy and side effects of such therapy are unknown. Identifying the gene for alkaptonuria offers the potential for a new therapeutic approach (replacement therapy with a recombinant enzyme) in the treatment of alkaptonuric ochronosis.
Topics: Aged; Alkaptonuria; Aortic Valve Insufficiency; Female; Femoral Fractures; Heart Valve Prosthesis; Humans; Internal Fixators; Ochronosis
PubMed: 15931360
DOI: 10.3121/cmr.2.4.209 -
Journal of the American Academy of... Aug 1997Alkaptonuric ochronosis is a rare inborn metabolic disorder. Because of the deficient activity of the enzyme homogentisic acid oxidase, homogentisic acid accumulates in... (Review)
Review
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 air or after addition of alkaline solution is characteristic. We describe two brothers with typical alkaptonuric ochronosis with dark urine, blue pigmentation of auricles and axillae, focal brown hyperpigmentation of sclerae, and anthropathy.
Topics: Ear Diseases; Ear, External; Humans; Hyperpigmentation; Male; Middle Aged; Ochronosis; Scleral Diseases
PubMed: 9270533
DOI: No ID Found -
Joint Bone Spine Jul 2020
Topics: Humans; Interleukin 1 Receptor Antagonist Protein; Ochronosis; Radiography; Spine; Spondylitis, Ankylosing
PubMed: 32147566
DOI: 10.1016/j.jbspin.2020.02.006 -
The American Journal of Dermatopathology Jul 2022
Topics: Alkaptonuria; Collagen; Humans; Ochronosis
PubMed: 35234189
DOI: 10.1097/DAD.0000000000002172 -
The Journal of Rheumatology Apr 2013
Topics: Aged, 80 and over; Alkaptonuria; Arthroplasty, Replacement, Hip; Female; Femur Neck; Hip Joint; Humans; Ochronosis; Osteoarthritis, Hip
PubMed: 23547256
DOI: 10.3899/jrheum.121407 -
Journal of Inherited Metabolic Disease Nov 2021
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Cartilage; Homogentisic Acid; Humans; Incidental Findings; Joint Diseases; Male; Middle Aged; Ochronosis
PubMed: 34264534
DOI: 10.1002/jimd.12417