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<jats:title>Abstract</jats:title><jats:p>We report the case of a family with late‐onset ornithine transcarbamylase deficiency (<jats:styled-content style="fixed-case">OTCD</jats:styled-content>). Several family members had died from <jats:styled-content style="fixed-case">OTCD</jats:styled-content>, and the c.<jats:styled-content style="fixed-case">221G>A</jats:styled-content>, p.<jats:styled-content style="fixed-case">L</jats:styled-content>ys221<jats:styled-content style="fixed-case">L</jats:styled-content>ys mutation was detected at the 3′ end of exon 6 of <jats:italic><jats:styled-content style="fixed-case">OTC</jats:styled-content></jats:italic> in the <jats:styled-content style="fixed-case">X</jats:styled-content>‐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 <jats:styled-content style="fixed-case">OTCD</jats:styled-content> 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 <jats:styled-content style="fixed-case">OTCD</jats:styled-content> can and should be diagnosed and treated in the early neonatal period, especially those from families already diagnosed with late‐onset <jats:styled-content style="fixed-case">OTCD</jats:styled-content>, and family members must be provided with genetic counseling.</jats:p>
収録刊行物
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- Pediatrics International
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Pediatrics International 57 2015-02-01
Wiley
