Hyperammonemia: a review of etiologies, whole-exome sequencing diagnosis, and Iranian case reports.

Authors

Reza Hajati, Sharareh Kamfar, Reyhaneh Seyfi, Arezou Sayad

Published in

Journal of diabetes and metabolic disorders. Volume 25. Issue 2. Pages 256. Epub Sep 11, 2026.

Abstract

Hyperammonemia is a serious metabolic disturbance characterized by elevated blood ammonia levels that can lead to severe neurological complications. This review aims to provide a comprehensive overview of inherited metabolic disorders associated with hyperammonemia and to evaluate the diagnostic role of whole-exome sequencing (WES), with particular attention to Iranian patient data.
A narrative literature search was performed in PubMed/MEDLINE and Google Scholar (1990-2024) using key terms related to hyperammonemia, its inherited etiologies, and whole-exome sequencing.
Three major categories of inherited disorders associated with hyperammonemia were identified: urea cycle disorders (incidence 1:35,000), organic acidemias (incidence 1:3,600), and fatty acid oxidation deficiencies (incidence 1:9,000). WES has emerged as a powerful diagnostic tool enabling precise genetic diagnosis, as illustrated by several Iranian case reports with novel pathogenic variants.
Early recognition and accurate genetic diagnosis of hyperammonemia are crucial for optimal patient outcomes. While challenges such as variant interpretation and accessibility remain, the integration of clinical, biochemical, and genetic data, particularly through WES, is essential for effectively diagnosing and managing these disorders.

PMID:
42732208
Bibliographic data and abstract were imported from PubMed on 13 Sep 2026.

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