Lactosuria and amino-aciduria in infancy. A new inborn error of metabolism?
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Fifteen patients with artificial heart valves and evidence of chronic intravascular haemolysis were studied for proximal tubular dysfunction. Three patients had haemosiderinuria and haemoglobinuria; 2 had haemoglobinuria alone. Increased urinary amino acid nitrogen occurred in 8, raised fractional beta 2-microglobulin excretion in 2, hypophosphataemia in 4, renal glycosuria in 1 and enhanced fractional urate excretion in 1. Urinary N-acetyl-beta-glucosaminidase (NAG) excretion increased in 7; the mean urinary NAG/creatinine ratio was raised to twice the upper limit of the normal range. Renal haemosiderosis due to chronic intravascular haemolysis could cause tubular injury.
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