ReviewGastroenterology and hepatology from bed to bench2024
The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.
Review in Gastroenterology and hepatology from bed to bench, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Hepatic encephalopathy (HE) is a serious neurological disorder characterized by brain dysfunction due to liver failure which occurs as a result of chronic or acute liver disease. HE can manifest with various neurological or psychiatric symptoms ranging from 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 of 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 various types of inherited disorders related to low levels of carnitine. A strong correlation exists between the insufficiency of carnitine and the occurrence of HE. If a deficiency of carnitine is identified through clinical symptoms or laboratory results in patients with liver dysfunction, treatment with carnitine replacement therapy is recommended. Thus, the administration of acetyl-L-carnitine in patients with HE can improve their mental and psychological conditions. In the present study, we provide an overview of the molecular and cellular mechanisms underlying HE. Our aim in this review has been genetic investigation of HE and genetic mutations to the causes of this neurological condition, which include carnitine deficiency, hyperammonemia, and etc. Finally, we discuss the genetic mutations that lead to carnitine deficiency as well as hyperammonemia and are associated with this neurological disease, together with the future treatment of this disease based on carnitine therapy. More studies soon will help early diagnosis (before poor prognosis) based on clinical observations, genetic tests, prenatal diagnosis, and new treatment strategies. Hepatic encephalopathy, Carnitine, Ammonia, Genetic, Treatment.
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