Genetic defects of hepatic encephalopathy and the role of carnitine functional pathway: Review
Gastroenterology and Hepatology from Bed to Bench,
Vol. 17 No. 4 (2024),
2 December 2024
https://doi.org/10.22037/ghfbb.v17i4.2960
Abstract
Hepatic encephalopathy (HE) is a serious neurological disorder characterized by brain dysfunction due to liver failure that occurs as a result of chronic or acute liver disease. HE can manifest with various neurological or psychiatric symptoms that can range excessive sleepiness and sleep disorders to coma. HE is a serious disorder that in acute conditions can even lead to the death of the patient due to cerebral edema. Carnitine acts as a vital component in facilitating the transport long-chain fatty acids into the mitochondria, thereby enabling their oxidation for the generation of energy. Carnitine additionally assumes a crucial role in the functionality of the brain. Carnitine deficiency is associated with a various types of inherited disorders related to low levels of carnitine. A strong correlation exists between the insufficiency of carnitine and the occurrence HE. Therefore, the administration of acetyl-L-carnitine in patients with HE can improve their mental and psychological conditions. We provide an overview of the molecular and cellular mechanisms underlying HE. Our aim in this review is the genetic investigation of HE and genetic mutations to the causes of this neurological condition, which include carnitine deficiency, hyperammonemia etc. Finally, in this study, we discuss the genetic mutations that leads to carnitine deficiency and hyperammonemia and are associated with this neurological disease, as well as the future treatment of this disease based on carnitine therapy. More studies in the near future will help early diagnosis (before poor prognosis) based on clinical observations, genetic tests, prenatal diagnosis and new treatment strategies.
- genetic
- hepatic encephalopathy
- carnitine
How to Cite
References
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