Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a ...
Alkaptonuria, a metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis is one of the first conditions in the group of inborn errors of metabolism proposed to have Mendelian recessive inheritance. It is due to the deficiency of the enzyme homogentisic acid (...
Alkaptonuria is a rare autosomal recessive disorder that is due to a mutation in the homogentisate 1,2 dioxygenase (HGD) gene, resulting in abnormalities of tyrosine catabolism and tissue deposition of homogentisic acid. The tissue deposition of this compound causes black pigmentation of collagenous ti...
Ochronosis Amyloidosis Homogentisic acid 1. Introduction Alkaptonuria (AKU; MIM no. 203500) is a rare disease (1:250,000–1,000,000 incidence) resulting from a deficiency of the enzyme homogentisate1,2-dioxygenase (HGO) that splits the aromatic ring of homogentisic acid (HGA, 2,5-dihydroxy...
Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme ...
Homogentisic acid accumulated in the body forms a melanin-like polymer that is deposited in the connective tissues, causing a pathologic pigmentation known as ochronosis. In their late 20s, patients start to suffer severe pain due to degenerative ochronotic arthropathy of intervertebral discs and ...
Alkaptonuria is a rare inherited disorder that occurs due to deficiency of homogentisic acid oxidase, resulting in the triad of dark-colored urine, ochronosis, and ochronotic arthropathy. Life expectancy is usually normal. The incidence of alkaptonuria is 1 in 250000 to 1 in 1000000 live ...
Synonyms Ochronosis . Definition A disease due to mutations resulting in deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGO) in the liver. This was the first disorder in humans thought to conform to principles of autosomal recessive inheritance, and was described in 1908 as an ...
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and skeletal involvement. Histopathological examination also...
Alkaptonuria is a rare inherited autosomal recessive metabolic disorder due to the deficiency of homogentisic acid oxidase resulting in accumulation of homogentisic acid in collagen and cartilaginous tissue resulting in stiffening of joints, spine and involving other systems which pose chal...