Early intervention for late‐onset ornithine transcarbamylase deficiency |
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| Authors: | Daisuke Fujisawa Hiroshi Mitsubuchi Shirou Matsumoto Masanori Iwai Kimitoshi Nakamura Ryuji Hoshide Nawomi Harada Makoto Yoshino Fumio Endo |
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| Affiliation: | 1. Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan;2. Department of Pediatrics and Child Health, Kurume University of Medicine, Kurume, Japan;3. Division of Gene Therapy and Regenerative Medicine, Cognitive and Molecular Research Institute of Brain Diseases, Kurume University, Kurume, Japan |
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| Abstract: | We report the case of a family with late‐onset ornithine transcarbamylase deficiency (OTCD). Several family members had died from OTCD, and the c.221G>A, p.Lys221Lys mutation was detected at the 3′ end of exon 6 of OTC in the X‐chromosome of some members. We provided genetic counseling on pregnancy, delivery, and neonate management to a 4th‐generation female carrier and decided on metabolic management of her child from birth. Two male patients were diagnosed with late‐onset OTCD on the basis of blood amino acid and genetic analysis, and they received arginine supplementation from the asymptomatic, early neonatal period. These children grew and developed normally, without decompensation. Patients with late‐onset OTCD can and should be diagnosed and treated in the early neonatal period, especially those from families already diagnosed with late‐onset OTCD, and family members must be provided with genetic counseling. |
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| Keywords: | arginine supplementation blood amino acid analysis genetic analysis genetic counseling late‐onset ornithine transcarbamylase deficiency |
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