Concurrence of Cystathioninuria, Nephrogenic Diabetes Insipidus and Severe Anemia

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Abstract
CONGENITAL cystathioninuria was first described by Harris et al.1 in 1959, and since then only 3 additional cases of this unusual disorder have been reported.2 3 4 5 6 Each of the 4 patients exhibited a grossly increased urinary excretion of cystathionine, and concentrations of this amino acid were found to be elevated in tissues obtained at autopsy from the original patient.1 , 7 Additional abnormalities have been present in each of the cases reported. Liver biopsies have demonstrated that a deficiency of enzymatic activity of cystathionase and homoserine dehydratase partially blocks the formation of cysteine from cystathionine, and thus causes accumulation of cystathionine in the . . .

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