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European Journal of Human Genetics, 2021
Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy.
Andrea Soltysova +3 more
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Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy.
Andrea Soltysova +3 more
openaire +2 more sources
The Indian Journal of Pediatrics, 1958
A case of alkaptonuria with pigmented gums in an Indian child of five and a half years of age is presented. Our aim in presenting this case is to draw attention to this rare inborn metabolic error particularly because the presenting complaints may be almost negligible; to assess properly the significance of a positive reduction test whenever urine is ...
S, VAISHNAVA, B M, PULIMOOD
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A case of alkaptonuria with pigmented gums in an Indian child of five and a half years of age is presented. Our aim in presenting this case is to draw attention to this rare inborn metabolic error particularly because the presenting complaints may be almost negligible; to assess properly the significance of a positive reduction test whenever urine is ...
S, VAISHNAVA, B M, PULIMOOD
openaire +2 more sources
Journal of Inherited Metabolic Disease, 2015
AbstractAlkaptonuria (AKU) is an ultra‐rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA‐melanin ochronotic pigment, of hitherto unknown composition. Besides the accumulation of HGA, the potential role and presence of unidentified proteins has
MILLUCCI, LIA +6 more
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AbstractAlkaptonuria (AKU) is an ultra‐rare inborn error of metabolism developed from the lack of homogentisic acid oxidase activity, causing homogentisic acid (HGA) accumulation that produces an HGA‐melanin ochronotic pigment, of hitherto unknown composition. Besides the accumulation of HGA, the potential role and presence of unidentified proteins has
MILLUCCI, LIA +6 more
openaire +4 more sources
Journal of Inherited Metabolic Disease, 2016
AbstractAlkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU.
MILLUCCI, LIA +10 more
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AbstractAlkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU.
MILLUCCI, LIA +10 more
openaire +3 more sources
Journal of the American Medical Association, 1924
This case is reported not only for its rarity but also to call attention to the fact that not all urines which give a positive test for sugar with copper solutions are necessarily diabetic, but should be studied more thoroughly before instituting diabetic therapy. REPORT OF CASE History. —F. R., a foreman, aged 56, was referred to me, June 25, 1923,
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This case is reported not only for its rarity but also to call attention to the fact that not all urines which give a positive test for sugar with copper solutions are necessarily diabetic, but should be studied more thoroughly before instituting diabetic therapy. REPORT OF CASE History. —F. R., a foreman, aged 56, was referred to me, June 25, 1923,
openaire +1 more source