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Familial hypertryptophanemia in two siblings
Author(s) -
Martin John R.,
Mellor Clive S.,
Fraser F. Clarke
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03956.x
Subject(s) - sibling , sister , heterozygote advantage , medicine , metabolite , mood , psychology , identical twins , endocrinology , genetics , pediatrics , developmental psychology , biology , gene , psychiatry , allele , sociology , anthropology
Mild and moderate mental retardation with exaggerated affective responses, periodic mood swings, and apparent hypersexual behavior were present in two siblings with hypertryptophanemia and tryptophanuria. In addition, the male had severe myopia, a speech impediment, musculo‐skeletal abnormalities and perceptual hypersensitivity. His sister was deaf, which was ascribed to antenatal rubella. The occurrence in siblings and the presence of abnormal urinary tryptophan metabolites in the mother and a half‐sibling suggest that the condition results from an autosomal recessive gene with minor expression in some heterozygotes.