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Article

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.

Disease models & mechanisms - 1 Jul 2025

Bakshi Stuti, Diep Taryn, Willis Brandon J, Reyes Rachel, Wu Grace F, Makris Georgios, Poms Martin, Day Isabel, Sun Qin, Zhuravka Irina, Lueptow Lindsay, Tang Michelle, Cromie Gareth A, Dudley Aimée M, Häberle Johannes, Lipshutz Gerald S

Abstract excerpt

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare metabolic disorder that, in neonatal onset, is typically characterized by severe life-threatening and neurologically injuring hyperammonemic episodes with high unmet patient need. Patients that retain limited enzyme activity may present later in life with less severe hyperammonemia. CPS1 drives the first step in the urea cycle, the pathway terrestrial...

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Identifiers

PMID: 40421838
DOI: 10.1242/dmm.052303
PMCID: PMC12208401

Genes

CPS1

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

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A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.PMID 40421838Read ↗

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