Evidence map›Paper›PMID 38628283›Full record

ArticleAutopsy & case reports2024

Carnitine-acylcarnitine translocase deficiency: a case report with autopsy.

Chennakeshava Thunga, Suvradeep Mitra, Devi Dayal, Sadhna Lal

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Autopsy & case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 41% of its field
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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
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

4 authors at 1 institution in 1 country.

Chennakeshava ThungaPost Graduate Institute of Medical Education and Research (PGIMER), Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Chandigarh, India.ORCID 0000-0002-5346-7873
Suvradeep MitraPost Graduate Institute of Medical Education and Research (PGIMER), Department of Histopathology, Chandigarh, India.ORCID 0000-0002-5520-8306
Devi DayalPost Graduate Institute of Medical Education and Research (PGIMER), Department of Pediatrics, Endocrinology and Diabetes Unit, Chandigarh, India.ORCID 0000-0002-3279-6002
Sadhna LalPost Graduate Institute of Medical Education and Research (PGIMER), Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Chandigarh, India.ORCID 0000-0003-0908-3650
Post Graduate Institute of Medical Education and Research · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fatty acid oxidation defects are a heterogeneous group of disorders related to the mitochondrial fatty acid oxidation pathway. Carnitine acylcarnitine translocase (CACT) is an enzyme responsible for the unidirectional transport of acylcarnitine across the inner mitochondrial membrane. This enzyme plays a crucial role in the oxidation of fatty acids. The autopsy pathology of the CACT deficiency is described in only a few cases. We describe the autopsy pathology of a child with CACT deficiency dominantly in the form of microvesicular steatosis of the hepatocytes, renal proximal tubular epithelia, cardiac myocytes, and rhabdomyocytes. The diagnosis was further confirmed on whole exome sequencing with compound heterozygous variants in the exon 1 (c.82G>T, p.Gly28Cys; likely pathogenic) and exon 5 (c.535G>A, p.Asp179Asn; uncertain significance) of the

Indexed as

AutopsyFatty liverPathology

Identifiers

PMID38628283
PMCPMC11021025
OpenAlexW4394001942

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 OpenQuestion graph.