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 ...

Once upon a time The 'one gene, one polypeptide' dictum has an old pedigree. The story starts almos~ as soon as Mendel's laws were re-discovered. In 1902 Archibald E. Garrod l, on the advice of Bateson, interpreted alkaptonuria as a single recessive mendelian trait. Alkaptonuria is a very rare and not terribly serious condition in which a compound called 'alkapton' is excreted in urine. This co...

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 is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of the study is to examine the possibility of the nervous system involvement in patients with alkaptonuria The sample consists of two groups; 22 ...

Alkaptonuria is a rare autosomal recessive, single-gene metabolic disease caused by the lack of the enzyme homogentisic acid oxidase and characterized by black pigmentation of cartilage and other connective tissues. 38 yr old male was admitted to the orthopedics ward with bilateral hip pain for the past 3 years and inability to walk for the past 1yr. He had also complained of brownish-black dis...

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 ...

Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-...

The enzyme 4-hydroxyphenylacetate, NAD(P)H:oxygen oxidoreductase (1-hydroxylating) (EC 1.14.13 ...; 4-hydroxyphenylacetate 1-monooxygenase; referred to here as 4-HPA 1-hydroxylase) was induced in Pseudomonas acidovorans when 4-hydroxyphenylacetate (4-PHA) was utilized as carbon source for growth; homogentisate and maleylacetoacetate were intermediates in the degradation of 4-HPA. A preparation ...