Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

GeneAug 1, 2026 (epub)
Case ReportMedical GeneticsGastroenterology

An-Kang Zhu, Shi-Ni Cai, Chun-Hui Hu et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Although the classical presentation is dominated by hyperammonemia-related neurological manifestations, some patients may present with atypical liver-predominant phenotypes, which can delay early diagnosis.

Source

PubMed · PMID 42542173

Published in Gene. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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