The renal
aminoacidurias. Clinical Chemistry 9(1):19-26.
Congenital tryptophanuria with dwarfism ("H" disease-like clinical feature without indicanuria and generalized
aminoaciduria):-a probably new inborn error of tryptophan metabolism.
It is characterized by proximal tubular dysfunction and 30-80% of patients can progress to chronic kidney disease or renal failure: low molecular weight proteinuria, hypercalciuria, glycosuria, phosphaturia,
aminoaciduria, uricosuria, hematuria and nephrocalcinosis (140,141,142).
Two of them were positively diagnosed as cases of methlymalonic aciduria, 2 had branched chain
aminoaciduria and one showed tyrosinuria.
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.
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.
3 Phenylketonuria is an example of which type of
aminoaciduria?
The manifestations of Cd nephrotoxicity include proteinuria, calciuria,
aminoaciduria, glycosuria, and tubular necrosis (IPCS 1992; Jarup et al.
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.
In cases associated with Fanconi syndrome, the most classical presentation includes tubular dysfunction with
aminoaciduria, phosphaturia, and glucosuria.
Histologic changes are paralleled by glucosuria,
aminoaciduria, proteinuria, polyuria, and increased excretion of enzymes such as alkaline phosphatase and lactate dehydrogenase (5,10,12,17,20,21) as indicators of altered function of proximal tubules and cell damage, respectively.