aminoaciduria

Aminoaciduria in vitamin D deficiency states in premature infants and older infants with rickets.

The other 2 patterns of proximal tubular damage are characteristically seen in patients with clinical Fanconi syndrome exhibiting type II renal tubular acidosis, phosphaturia, hyperuricemia, aminoaciduria, and glycosuria without hyperglycemia (those associated with cytoplasmic inclusions in proximal tubular cells and those with constipated lysosomes).

Extensive aminoaciduria was found in urinary amino acid analysis.

Respiratory distress and developmental delay were the commonest presentations.3 A study screened 2,000 children for IEM by paper chromatography of urine and identified two sisters with alkaptonuria.4 At Mayo Hospital, Lahore, one case of alkaptonuria and three siblings with mental retardation and aminoaciduria were detected from among 2,000 children screened.5 These studies show that IEM, though undiagnosed, are not uncommon in our set-up.

Treem and Stanley concluded that secondary carnitine deficiency in cystic fibrosis may be caused by chronic malnutrition, feeding infants with low-carnitine baby milk, loss of appetite, vomiting due to frequent lower respiratory tract infections, vitamin D deficiency, secondary hyperparathyroidism followed by renal tubule defect with hyperphosphaturia, aminoaciduria and tubule acidosis [19].

In children, the signs of lead toxicity can be growth failure, language delay, behavioral changes, hyperactivity, increased intracranial at pressure, abdominal pain and aminoaciduria. For adults and children, the signs of lead toxicity are blood lead over 10 mcg/dL, hypertension, decreased nerve conduction velocity, hyper-reflexia, tremors, upper extremity weakness, forearm extensor weakness (wrist drop), gingival lead lines (purple-blue lines within gingival tissue), buccal lead staining, papilledema, increased intracranial pressure and macular gray stains.

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. Lancet 1998;351:490-3.

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.