Evidence map›Paper›PMID 40406429›Full record

ReviewGastroenterology and hepatology from bed to bench2024

The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.

Ali Kheirandish, Reza Shah Hosseini, Shirin Yaghoobpoor, Ashkan Bahrami, Alireza Aghajani, Mobina Fathi, Milad Alipour, Ameneh Zarebidoki, Ashraf Mohamadkhani

Abstract readReview
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Ali KheirandishDepartment of Pharmacology, School of Medicine, Iran University of Medical Sciences, Hemmat Highway, Tehran, Iran.
Reza Shah HosseiniIstanbul Medipol University, faculty of medicine, medical student, Istanbul, Turkey.
Shirin YaghoobpoorStudent Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ashkan BahramiSchool of Medicine, Kashan University of Medical Science, Kashan, Iran.
Alireza AghajaniStudent Research Committee, School of Medicine, Anzali International Campus, Guilan University of Medical Sciences, Rasht, Iran.
Mobina FathiStudent Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Milad AlipourMedical Student, Department of Medicine, Islamic Azad University Tehran Medical Sciences, Iran.
Ameneh ZarebidokiStudent Research Committee, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Ashraf MohamadkhaniLiver and Pancreatobiliary Diseases Research Center, Digestive Diseases Research Institute, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Identifiers

PMID40406429
PMCPMC12094506

What Socratic holds

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LicenceCC BY-NC
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.