Last Updated：2025/11/22

(pathology) A rare genetic metabolic disorder of the urea cycle. Abbreviated as OTC.

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ornithine transcarbamylase deficiency

Source Word

ornithine transcarbamylase deficiency

Noun

uncountable

(pathology) A rare genetic metabolic disorder of the urea cycle. Abbreviated as OTC.

Japanese Meaning

オルニチン・トランスカルバミラーゼ欠損症は、尿素回路に関わるまれな遺伝性の代謝障害です。

A newborn was screened for ornithine transcarbamylase deficiency after presenting with unexplained hyperammonemia.

新生児は原因不明の高アンモニア血症を呈した後、オルニチンカルバモイル基転移酵素欠損症のスクリーニングを受けました。

Sense（1）

(pathology) A rare genetic metabolic disorder of the urea cycle. Abbreviated as OTC.