Cystathioninuria in Two Healthy Siblings

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Abstract
Tests in two siblings with cystathioninuria indicated that the disorder is congenital and not secondary. Yet both children enjoy good physical and mental health. Their parents excrete substantial amounts of cystathionine in urine only after methionine loading, and thus appear to be heterozygous for the cystathioninuria gene. It is possible that the mental defect and other serious disorders that have been described in six of the seven previously reported cases of cystathioninuria were coincidental, and in no way the result of the genetically determinded deficiency of the cystathionine-cleaving enzyme. Cystathioninuria may prove to be a benign disorder requiring no treatment.

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