Alkaptonuria, Ochronosis, and Arthritis in a Cypriot Woman

A Case of Alkaptonuria Associated with Ochronosis and Purpuric Rashes

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

AIMS To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. METHODS A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide pri...

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

OBJECTIVES 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 years, leading to CTDs including severe arthropathies. To investigate the mechanism of pigmentation a...

Alkaptonuria in a middle-aged female

Background: Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran. Case Presentation: A 54 year old woman ...

Degenerative arthritis of the knee secondary to ochronosis.

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 resulting in chronic inflammation, degeneration, and osteoarthritis. There is currently no definitive cur...