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A familial disorder that causes psychosis is described. Associated with the disorder are distinct patterns of physical symptoms and conditions that may be used to assist diagnosis. The proband carries genetic markers that link the disorder to schizophrenia in Irish high density schizophrenia families. The genetic and metabolic derangements underpinning the disorder are analysed and potentially linked. Evidence is considered which supports a working hypothesis in which haplotype SNPs located at IL3 and/or ACSL6 at 5q31.1 result in or from the failure or partial failure of one or more ERE to activate a pathway leading from P5CS to proline.
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