Wilson Amino aciduria

A thorough investigation of this type of amino aciduria has led to a more accurate and more complete picture of it (S34). Taurine excretion is low proline, citrulline, and cystine excretion may be abnormally high, and when this is the case there does not seem to be a relation between the cystine output, which may be considerable, and that of lysine. Moreover, whereas the intake of a meal has but little influence on amino aciduria in normals, it has a definite effect on the output of amino acids in the case of Wilson s disease finally the amino acid fasting levels in plasma are at the lower limit of normal. 

Wilson V, Thomson ML, and Dent, CE. Amino-aciduria in lead poisoning. A case in childhood. Lancet 1953 66-68. 

Amino aciduria without cupriuria has been described in some normal relatives of patients with Wilson s disease. It is assumed that such individuals are heterozygotes, and that amino aciduria is the primary defect in Wilson s disease rather than a secondary effect due to the disturbance in copper metabolism. 

Interpretation of Wilson s disease on the basis of disrupted copper metabolism is far from complete. The accumulation of copper in tissues is generally considered responsible for the lesions of the liver (cirrhosis), renal tubules (amino aciduria), and basal ganglia (neurological disorder), but the special affinity of these various tissues for copper remains to be explained, as does the mechanism of copper toxicity in these organs. Penicillamine, a copper-chelating substance, has been administered for treatment of Wilson s disease with some degree of success. In fact, it has even been claimed that asymptomatic victims of Wilson s disease can be treated preventively [56]. 

Uzman, L., Denny-Brown, D. Amino-aciduria in hepatolenticular degeneration (Wilson s disease). Amer. J. med. Sci. 215, 599-611 (1948)... 

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