Article

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

2023-07-20

Abstract excerpt

<title>Abstract</title> <p>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, depending on the residual enzymatic activity. Hyperammonemia can occur any time during life and patient...

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Literature Corpus work: 820e18bc-0490-58e7-aec7-e9b7033d0cd7
DOI: 10.21203/rs.3.rs-2913655/v1

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