aminoaciduria

Among these 12 cases, 3 were having generalized aminoaciduria, 1 presented with pheylketonuria and 1 showed branched chain aminoaciduria 1 presented with argininemia.

Entre las aminoacidurias esta la cisteinuria en la que hay mala absorcion de cisteina en el intestino y reabsorcion disminuida en el rinon.

Aminoaciduria resulting from vigabatrin administration in children with epilepsy.

La cromatografia en sangre y orina para aminoacidos mostro aminoaciduria generalizada.

Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.

Chromatography of urinary amino acids revealed massive generalized neutral aminoaciduria and indicanuria.

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.

Una exposicion severa por un periodo breve se la asocia con alteraciones reversibles de la funcion tubular proximal --glicosuria, aminoaciduria, hiperfosfaturia (1).

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.

If the galactose-1-phosphate level is lower than 2 mg/dL and there is no aminoaciduria, the child can remain on an unrestricted diet and is finished with follow-up.

Several genetic defects in specific carriers needed for tubular reabsorption of specific amino acids cause aminoaciduria, including cystinuria and Hartuup disease.

La cistinuria es una aminoaciduria hereditaria que a largo plazo produce nefrolitiasis.