Whole-exome sequencing reveals the molecular diagnoses of pediatric patients presenting with hyperammonemia

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24 Oct 2026 0 comments

CONCLUSION: This study highlights the diagnostic power of WES in identifying unexpected molecular causes of pediatric hyperammonemia and expanding the spectrum of implicated genes. The identification of these three novel variants emphasizes the genetic heterogeneity of HA and supports early genomic testing in patients with unexplained or atypical biochemical profiles.