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Homocystinuria is characterized by increased urine levels of homocystine. Latta, et al., “Treatment of inherited metabolic disorders by liver transplantation,” Journal of Inherited Metabolic Disease, vol. 14, pp. 604–618, 1991. The genetic susceptibility to a particular disease due to the presence of one or more gene mutations, and/or a combination of alleles need not necessarily be abnormal. Most cases of Kenny-Caffe Syndrome are thought to be inherited as autosomal dominant genetic traits.

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