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Article

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.

BMC medical genomics - 16 Dec 2025

Hajati Reza, Hashemian Fatemeh, Salehpour Shadab, Sayad Arezou

Abstract excerpt

BACKGROUND: Hyperammonemia, not a disorder, but an outcome of a disorder marked by elevated ammonia levels in the blood, is a serious medical condition that makes accurate diagnosis based on clinical and laboratory findings challenging. In this scenario, employing advanced genetic tests like whole exome sequencing can provide crucial insights that help clinicians better manage the disease. Also, identifying...

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Identifiers

PMID: 41402828
DOI: 10.1186/s12920-025-02265-7
PMCID: PMC12709761

Genes

ASS1
CPS1
HMGCL
MMUT
OTC
PCCB
PDHA1
SLC7A7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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