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Article

Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase.

ACS chemical biology - 16 May 2025

Micheloni Emily, Watson Samantha S, Beuning Penny J, Ondrechen Mary Jo

Abstract excerpt

Human ornithine transcarbamylase deficiency (OTCD) is the most common ureagenesis disorder in the world. OTCD is an X-linked genetic deficiency in which patients experience hyperammonemia to varying degrees depending on the severity of the genetic mutation. More than two-thirds of the known mutations are caused by single nucleotide substitutions. In this paper, partial order optimum likelihood (POOL), a machine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40059726
DOI: 10.1021/acschembio.5c00043
PMCID: PMC12090190

Genes

OTC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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