メバロン酸血症保因者を疑った不育症の1例

概要

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We report a 32-year-old female with multiple abortions and two infantile deaths presumably caused by a probable carrier of an autosomal recessive disorder, mevalonic aciduria (mevalonic acidemia). Detailed review of her obstetrical history and specifically dysmorphic features of her affected infants suggested the disorder. A high level of mevalonic acid detected in stored plasma from her infant led to a definite diagnosis. Review of autopsy findings regarding two other siblings revealed that both were compatible with mevalonic aciduria. When investigating habitual aborters, it is importnat to compare the features of each miscarriage with possible hereditary metabolic diseases.
社団法人日本産科婦人科学会の論文
1999-07-01