Mevalonic acidemia: First case of Japan |
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| Authors: | Nobuhiko Okamoto Mashiro Nakayama Chie Narahara Han-suk Kim Masashi Fujioka Isao Imada Tatsuya Arai Soichiro Toda |
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| Affiliation: | (1) Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, 590-02 Osaka, Japan;(2) Laboratory Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, 590-02 Osaka, Japan;(3) Maternal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, 590-02 Osaka, Japan;(4) Department of Pediatrics, Osaka Medical College, 2-7 Daigakumachi, Takatsuki, 569 Osaka, Japan;(5) Department of Pediatrics, PL Hospital, 2172-1 Shindo, Tondabayashi, 584 Osaka, Japan;(6) Teijin Biolaboratories, 3-5-5 Midorigaoka Hamura, 205 Tokyo, Japan |
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| Abstract: | Summary Mevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable diarrhea, liver dysfunctions and death at three months of age. Dysmorphic features including triangular face, protrusion of forehead, hypertelorism, low set ears and micrognathism were noted. High mevalonic acid level was found by GC/MS. |
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| Keywords: | mevalonic acidemia mevalonic acid mevalonate kinase deficiency cholesterol biosynthesis GC/MS |
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