Article

Ammonia Storm: Unmasking a Rare Urea Cycle Disorder in Adulthood

2026-04-02

Abstract excerpt

<title>Abstract</title> <p>Background Hyperammonaemia is a medical emergency which is mostly associated with liver dysfunction. However, in the absence of hepatic disease, rare inborn errors of metabolism such as urea cycle disorders (UCDs) must be considered. While UCDs typically present in the neonatal period, partial enzyme deficiencies may remain clinically silent until adulthood and present abruptly with li...

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Literature Corpus work: fbeab9a1-d935-5507-b57a-2d3df1c03507
DOI: 10.21203/rs.3.rs-9153576/v1

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