n. an inborn defect in the metabolism of amino acids, leading to abnormal accumulation of the amino acid cystine in the blood, kidneys, and lymphatic system. See also Fanconi syndrome.
a disorder of the proximal kidney tubules, which may be inherited or acquired and is most common in children. It is characterized by the urinary excretion of large amounts of amino acids, glucose, and phosphates (though blood levels of these substances are normal). Symptoms may include osteomalacia, rickets, muscle weakness, and *cystinosis. Treatment is directed to the cause. [G. Fanconi]... fanconi syndrome
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