[Hyperaminoaciduria: Toni-Fanconi and Lowe- syndrome]
- PMID: 2678306
[Hyperaminoaciduria: Toni-Fanconi and Lowe- syndrome]
Abstract
Aminoaciduria is a normal finding, since normal subjects excrete finite amounts of amino acids, the pattern of amino acid excretion varying greatly among individuals. Hyperaminoaciduria can be defined in different ways: by an excessive fraction of total urinary nitrogen; by an increase in the total 24-hour excretion value; or by an exaggerated renal clearance. A generalized aminoaciduria with acidosis and hypophosphatemia distinguishes the De Toni-Fanconi and Lowe syndromes, both of which will be herewith discussed.
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