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Lower urinary tract symptoms and prostatic calculi: A rare presentation of alkaptonuria.
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Alkaptonuria is a rare tyrosine metabolic disorder. A deficiency of homogentisic acid oxidase leads to accumulation of homogentisic acid in the body. Dark-colored urine, cutaneous pigmentations and musculoskeletal deformities are characteristic features. Storage and voiding lower urinary tract
Plasma levels and urinary excretion of amino acids by subjects with renal calculi.
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Plasma levels and urinary amino acid excretions were estimated by high-performance liquid chromatography in 15 control subjects and 36 stone formers (SFs) classified according to the stone type: (1) 22 cases with calcium oxalate stones; (2) four cases with pure uric acid stones; (3) 10 cases with
[Alkaptonuria, prostatic calculi, and ectopic ureter].
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Alkaptonuria is an uncommon tyrosine metabolism disorder. Deficit of homogentisic acid oxidase leads to the elimination of large amounts of homogentisic acid in the urine with accumulation of homogentisic acid oxidized pigment in the connective tissue (ochronosis). The ultimate evolution of
[Extracorporeal partial nephrectomy and auto-transplantation after presurgical targeted therapy with tyrosine kinase inhibitors for renal cell cancer].
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A 74-year-old woman who had previously undergone left nephrectomy because of calculi was referred to our department with a right renal mass that was detected by computed tomography (CT) during treatment for pyelonephritis. Repeated CT showed a contrast-enhanced 4.7 cm tumor close to the renal sinus,
Histological and Ultrastructural Characterization of Alkaptonuric Tissues.
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Alkaptonuria (AKU) is a hereditary disorder that results from altered structure and function of homogentisate 1,2 dioxygenase (HGD). This enzyme, predominantly produced by liver and kidney, is responsible for the breakdown of homogentisic acid (HGA), an intermediate in the tyrosine degradation
A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria.
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Alkaptonuria is a rare recessive disorder of phenylalanine/tyrosine metabolism due to a defect in the enzyme homogentisate 1,2-dioxygenase (HGD) caused by mutations in the HGD gene. We report the case of a 38 year-old male with known alkaptonuria who was referred to an adult metabolic clinic after
Alkaptonuric aortic stenosis: a case report.
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Alkaptonuria is a rare disease of phenylalanine, aromatic amino acids, and tyrosine metabolism. Because of a genetic deficiency of the enzyme homogentisic acid oxidase, an accumulation of homogentisic acid causes ochronotic pigment deposition. The most common clinical manifestations are arthropathy,
Alkaptonuric Ochronosis.
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Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis.
NMR-based metabolomic analysis of human bladder cancer.
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Bladder cancer (BC) is one of the most common cancers and has a high mortality rate. However, both metabolite variations and metabolic pathways related to the pathogenic process of BC remain to be addressed, such results might contribute to early detection of the disease. (1)H nuclear magnetic
Post-translational modification and proteolytic processing of urinary osteopontin.
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OPN (osteopontin) is a highly phosphorylated glycoprotein present in many tissues and body fluids. In urine, OPN is a potent inhibitor of nucleation, growth and aggregation of calcium oxalate crystals, suggesting that it has a role in the prevention of renal stone formation. The role of OPN in
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