aminoaciduria


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aminoaciduria

[ə¦mē·nō‚as·ə¦dür·ē·ə]
(medicine)
A group of disorders in which excess amounts of amino acids are excreted in the urine; caused by abnormal protein metabolism.
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Two of them were positively diagnosed as cases of methlymalonic aciduria, 2 had branched chain aminoaciduria and one showed tyrosinuria.
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.
It leads to a specific aminoaciduria and to the retention of the same specific amino acids, including tryptophan in the intestine (1,2).
Glucosuria and aminoaciduria were noted to appear abruptly after three weeks of injections, and the complete expression of the Fanconi syndrome (i.
Aminoaciduria is a common finding among untreated infants, indicating progressive kidney injury with renal tubular damage (Gitzelmann & Bosshard, 1995).
The primary findings associated with chronic cadmium exposures in animals as well as humans were proteinuria, glucosuria, aminoaciduria, and progressive reduction in the glomerular filtration rate which was identified by the significantly increased serum creatinine and beta 2-microglobulin concentrations.
Further reports on TRMA described congenital heart disease, arrhythmias, abnormalities of the retina and optic nerve, aminoaciduria, situs inversus, and stroke-like episodes in addition to the characteristic triad.
The clinical onset is often insidious, and the proximal tubular damage caused by the crystals typically manifests with features of Fanconi syndrome, including normoglycemic glycosuria, aminoaciduria, hyperuricosuria, hyperphosphaturia, and type II renal tubular acidosis.
La presentacion clinica del sindrome incluye una amplia gama de anomalias de laboratorio como: aminoaciduria, acidosis tubular proximal, glucosuria con glucemia normal, hipofosfatemia, hipofosfaturia, hipouricemia, hipopotasemia, proteinuria de bajo peso molecular, poliuria, hipercalciuria y alteraciones esqueleticas.
Normalization of serum 25(OH)D and calcium and increase in urinary calcium excretion with disappearance of aminoaciduria are the important biochemical indices of healing osteomalacia.
In the renal aminoaciduria, a renal tubular defect is the cause.
The manifestations of Cd nephrotoxicity include proteinuria, calciuria, aminoaciduria, glycosuria, and tubular necrosis (IPCS 1992; Jarup et al.