1988•Nihon Naika Gakkai ZasshiOpen access

An adult case of familiar ornithine transcarbamylase deficiency.

Jun Shimizu, Minoru Yamakado, Hiroaki TAKEUCHI, Kazumi Tagawa, Tadao Unuma, Hiroshi Kiyose

Abstract

成人発症型OTC欠損症の1家系を経験したので報告する.症例: 20才,女.主訴:悪心,軽度意識障害.家族歴:母の男性同胞1名生後1カ月以内死亡.現病歴:生来健康であったが,昭和61年5月より悪心,嘔吐出現. 8月当科入院す.軽度意識障害を認め,血中NH3は, 172μmol/lと著明に高値.脳波:徐波.蛋白負荷テストで尿中orotic acidの上昇を認めた.肝生検:核糖原をもつ明るい胞体の肝細胞を認めた.肝組織OTC活性は,正常の17%に低下していた. NH4Cl負荷テストを,母を含む母系血縁者におこなった結果,母を含む数人に血中NH3の上昇をみた.

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Key concepts: Ornithine transcarbamylase, Medicine, Ornithine transcarbamylase deficiency, Orotic acid, Ornithine Carbamoyltransferase, Internal medicine, Endocrinology, Urea cycle