Chronic and Variable Manifestations of Ornithine Transcarbamylase Deficiency in Heterozygous Carriers: A Case Series of Three Colombian Patients

Abstract Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder with an estimated prevalence ranging from 1 in 56,500 to 1 in 113,000 live births. While hemizygous males typically present with early-onset hyperammonemic encephalopathy, females carrying pathogenic variants in...

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Κύριοι συγγραφείς:	Ana María Zarante-Bahamón, Jenniffer A. Romero-Morales, Jorge Luis Ramón-Gómez
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2025-10-01
Σειρά:	Journal of Inborn Errors of Metabolism and Screening
Θέματα:	Ornithine transcarbamylase deficiency hyperammonemia encephalopathy Women
Διαθέσιμο Online:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100603&tlng=en
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