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  • noun

Words related to aminoaciduria

abnormal presence of amino acids in the urine

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Such a finding was not consistent with the clinical phenotype of the patient, who was under investigation for a probable mitochondrial energy disorder that may have been associated with a generalized aminoaciduria.
Cuando una glucosuria normoglucemica se acompana de aminoaciduria y aumento de la excrecion urinaria de fosfato, a veces tambien de sodio, potasio, calcio, bicarbonato, proteinas, vitaminas y acido urico (analitos que paralelamente estan disminuidos en plasma), se habra configurado el Sindrome de Fanconi ("amino-diabetes"), una incapacidad de los tubulos proximales para resorber dichos compuestos.
Renal findings in these patients were typical of the Fanconi syndrome and included low molecular weight proteinuria, glucosuria, aminoaciduria, decreased tubular phosphorus reabsorption, low phenoisulphothalein excretion, and diminished concentrating ability; renal failure occurred in a few.
Abnormalities of copper metabolism in Wilson's Disease and their relationship to the aminoaciduria.
Renal vasodilation leads to increases in renin, urinary protein, aldosterone excretion, sodium and water reabsorption, glycosuria, and aminoaciduria.
Metabolic acidosis and elevations of lactate, pyruvate, lactate-to-pyruvate ratio, alanine, tricarboxylic acid cycle intermediates, dicarboxylic acids, or a generalized aminoaciduria can be important diagnostic clues to the presence of an oxidative phosphorylation disease.
Several genetic defects in specific carriers needed for tubular reabsorption of specific amino acids cause aminoaciduria, including cystinuria and Hartuup disease.