A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%–90% of the causative variants are identified by Sanger sequencing or multiplex ligation-depen...

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Bibliographic Details
Main Authors: Bennetts, B. (Author), Bhattacharya, K. (Author), Bratkovic, D. (Author), de Jong, G. (Author), Fazio, T. (Author), Fisk, K. (Author), Halligan, R. (Author), Hertzog, A. (Author), Selvanathan, A. (Author), Tolun, A.A (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2022
Subjects:
inborn errors of metabolism
ornithine transcarbamylase deficiency
promoter variants
urea cycle disorder
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