in calcium-deficiency rickets in northern Nigeria.
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
. The subsequent differential diagnosis for tryptophanuria would have included Hartnup condition, a disorder caused by a mutation in the SLC6A19 transporter, in which urinary neutral amino acids are increased because of a failure of tubular reabsorption (2).
Glucosuria and aminoaciduria
were noted to appear abruptly after three weeks of injections, and the complete expression of the Fanconi syndrome (i.e., diuresis, glucosuria, and aminoaciduria
, proteinuria, and increased sodium, potassium, calcium, magnesium, phosphate and urate clearance) was then elicited.
Abnormalities of copper metabolism in Wilson's Disease and their relationship to the aminoaciduria
. J Clin Invest.
Renal vasodilation leads to increases in renin, urinary protein, aldosterone excretion, sodium and water reabsorption, glycosuria, and aminoaciduria
. There are concomitant decreases in uric acid reabsorption and serum creatinine, sodium, and osmolarity.
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.
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.
The original patients with FRTS2 were adults with clinical features of increased renal phosphate and other substance wasting (without loss of bicarbonate) and significantly increased 1,25(OH)2D leading to severe skeletal deformities (HR in children and osteomalacia in adults), bone pain, marked hypercalciuria, glycosuria, generalized aminoaciduria
and tubular proteinuria without renal tubular acidosis (135).
[4-6] Primary aminoaciduria
is due to the enzyme defect in the metabolism of aminoacids eg., Phenylketonuria, Tyrosinemia and Secondary aminoaciduria
is due to the defect in the aminoacid transporter in the kidney and intestine e.g.