Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Abstract Background Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, less frequently, by a late-onset form with milder disease course, depend...

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Bibliographic Details
Main Authors: Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ornithine transcarbamylase deficiency (OTCD)
X-Linked
Father-to-daughter transmission
Hyperammonemia
Online Access:https://doi.org/10.1186/s13023-023-02997-8

Internet

https://doi.org/10.1186/s13023-023-02997-8

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