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Article

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse.

Molecular genetics and metabolism - 1 Nov 2013

Kasten Jennifer, Hu Chuhong, Bhargava Ragini, Park Hana, Tai Denise, Byrne James A, Marescau Bart, De Deyn Peter P, Schlichting Lisa, Grody Wayne W, Cederbaum Stephen D, Lipshutz Gerald S

Abstract excerpt

Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder. In a murine targeted knockout model, onset of the phenotypic abnormality is heralded by weight loss at around day 15, and...

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Identifiers

PMID: 23920045
DOI: 10.1016/j.ymgme.2013.06.020
PMCID: PMC3800271

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