An elderly gentleman with chronic lower back and bilateral knee pain was found to have clinical and radiographic findings consistent with alkaptonuria. Diagnosis was confirmed by the detection of elevated homogentisic acid level in the urine using gas chromatography-mass spectrometry.

Background Alkaptonuria is a rare autosomal recessive metabolic disorder with an incidence of 1 case in 250,000 to 1 million live births. This genetic abnormality involves the tyrosine metabolism pathway which results in homogentisic acid accumulation throughout various tissues, including the heart. The purpose of this study is to prospectively determine the prevalence of cardiovascular abnorma...

Recent studies in vitro of tyrosine metabolism have revealed the distribution and the r&e of the tyrosine-a-ketoglutaric acid transaminase system (l-8). In certain of these studies the obligatory rBle of this transaminase as a first step in the conversion of tyrosine to homogentisic acid has been indicated (6-S). The present study is concerned with the partial purification of dog liver tyrosine...

Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with history of darkish staining of the toilet commode following voiding. The urine when kept in a sterile container for a few hours turned black. Urine examination showed massive amounts of homogentisic acid. Patient was diagnosed as alkaptonuria.

Ochronotic arthropathy is a manifestation of longstanding alkaptonuria. With increasing age, an accumulation of pigment deposits of homogentisic acid in the joint cartilage results in ochronotic osteoarthritis. We present a case of a 62-year-old female who underwent staged left uncemented total hip and right cemented total knee arthroplasty for osteoarthritis secondary to ochronosis.

Five new galloyl glucosides of 2-C-methyl-D-erythriol (1–4) and homogentisic acid (5) were isolated from the aerial parts Saxifraga spinulosa. The structures compounds elucidated by spectroscopic methods. absolute configuration was determined using alkaline hydrolysis on their ester bond. parasitic growth inhibitory activities evaluated against Babesia bigemina, B. bovis, caballi, Theileria equ...

Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...

Melanins are a class of conjugated biopolymers with varying compositions and functions, which have variety potential medical technical applications. Here, this work examines the polymers derived from phenolic monomers (catechol (CAT), levodopa (DOPA), homogentisic acid (HGA)), using selection different analytical chemistry techniques to compare their properties view understanding structure–func...