Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in the connective tissues leading to dark pigmentation of connective tissue in patients with alkaptonuria. HGA deposits in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Only few cases are reported in the literature with multiple tendon rupture but many case reports are available with isolated rupture of tendons. We report on a patient with sequential tendon ruptures in a patient. The case is reported for its rarity
Objectives Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdow...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism ...
AbstractAlkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogent...
Ochronosis is dark pigmentation of connective tissue in patients with alkaptonuria. The dark pigment...
Spontaneous Achilles tendon ruptures are uncommon. We present a 46-year-old man with spontaneous Ach...
Ochronosis is the musculoskeletal manifestation of alcaptonuria, a rare autosomal recessive disorder...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inher...
AbstractINTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis ...
Ochronotic arthropathy is a rare complication in patients with alkaptonuria (AKU) that arises as a r...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Alkaptonuria is a rare inborn error of metabolism caused by mutations in the gene responsible for th...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
Objectives Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdow...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism ...
AbstractAlkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogent...
Ochronosis is dark pigmentation of connective tissue in patients with alkaptonuria. The dark pigment...
Spontaneous Achilles tendon ruptures are uncommon. We present a 46-year-old man with spontaneous Ach...
Ochronosis is the musculoskeletal manifestation of alcaptonuria, a rare autosomal recessive disorder...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation...
Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inher...
AbstractINTRODUCTIONAlkaptonuria is an autosomal recessive disorder of metabolism. The pathogenesis ...
Ochronotic arthropathy is a rare complication in patients with alkaptonuria (AKU) that arises as a r...
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare m...
Alkaptonuria is a rare inborn error of metabolism caused by mutations in the gene responsible for th...
Background: Alkaptonuria is a rare metabolic autosomal recessive disorder. Its aetiology involves ho...
Alkaptonuria, a rare disorder of amino acid metabolism, is characterised by the excretion in the uri...
Objectives Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdow...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism ...
AbstractAlkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogent...