[Hyperaminoaciduria: Toni-Fanconi and Lowe- syndrome].
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.
Cantani
A
A
Mastrantoni
F
F
D000596:Amino Acids / Q000652:urine*; D005198:Fanconi Syndrome / Q000652:urine*; D006801:Humans; D009800:Oculocerebrorenal Syndrome / Q000652:urine*; D015499:Renal Tubular Transport, Inborn Errors / Q000652:urine*
D000596:Amino Acids
Hyperaminoazidurien: de Toni-Fanconi und Lowe- syndrome.