Research advances in the pathogenesis of inherited hyperammonemia
SU Chang
DING Yuan
LI Le-le
GONG Chun-xiu
Abstract：Ammonia plays a crucial role in biosynthesis and metabolism.Elevated blood ammonia levels can lead to irreversible damage,particularly to the central nervous system.In children,the most common causes of hyperammonemia are liver failure and inherited metabolic disorders.Inherited hyperammonemia results from defects in enzymes involved in the urea cycle or related metabolic pathways.This article systematically reviews the pathogenesis of inherited hyperammonemia and its association with mitochondrial function,and investigate the role of mitochondrial function in inherited hyperammonemia,which may provide ideas for the development of new drugs.
Keywords：hyperammonemiapathogenesismitochondria
Publication Date：2024-11-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 868-872 )