Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment

Satsuki Yamamoto; Shun Yamashita; Toshihiko Kakiuchi; Kazuya Kurogi; Tomoyo M. Nishi; Masaki Tago; Shu-ichi Yamashita

doi:10.12659/AJCR.937658

15 November 2022 : Case report Japan

Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment

Challenging differential diagnosis, Management of emergency care, Rare disease

Satsuki Yamamoto^12AEF, Shun Yamashita

^1AEF*, Toshihiko Kakiuchi

^3AE, Kazuya Kurogi^14AEF, Tomoyo M. Nishi^1AEF, Masaki Tago

^1AEF, Shu-ichi Yamashita^1AEF

DOI: 10.12659/AJCR.937658

Am J Case Rep 2022; 23:e937658

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Figure 1. Cranial magnetic resonance imaging findings on admission. (A) Diffusion-weighted image, (B) T1-weighted image, (C) fluid-attenuated inversion recovery image. Cranial magnetic resonance images show no abnormalities, including high signal intensity in the basal ganglia on T1-weighted images, which can occur in patients with hepatic encephalopathy.

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Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment

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