Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report.

Rochelle N Wickramasekara, Pashayar P Lookian, Jeannie Ngo, Annemarie Shibata, Holly A F Stessman

Abstract read

In one paragraph

Article in Reports (MDPI), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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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

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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.

CPT2 Deficiency Modeled in Zebrafish: Abnormal Neural Development, Electrical Activity, Behavior, and Schizophrenia-Related Gene Expression.Biomolecules · 2024
Article

4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Rochelle N WickramasekaraDepartment of Pharmacology & Neuroscience, School of Medicine, Creighton University, Omaha, NE 68178, USA.ORCID 0000-0003-3090-9357

Pashayar P LookianDepartment of Pharmacology & Neuroscience, School of Medicine, Creighton University, Omaha, NE 68178, USA.

Jeannie NgoDepartment of Psychiatry, School of Medicine, Creighton University, Omaha, NE 68178, USA.

Annemarie ShibataDepartment of Biology, College of Arts and Sciences, Creighton University, Omaha, NE 68178, USA.

Holly A F StessmanDepartment of Pharmacology & Neuroscience, School of Medicine, Creighton University, Omaha, NE 68178, USA.ORCID 0000-0002-0764-3493

Funding

UNMC Structural Biology CoreP20GM103427 · NIGMS · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI Heather Colleen Jensen-Smith · 2012 to 2026

$59.2M

NIGMS NIH HHS P20 GM103427

6 · The paper itself

Abstract

Schizophrenia is a multifaceted mental illness characterized by cognitive and neurobehavioral abnormalities. Carnitine palmitoyltransferase II (CPT II) deficiency is a metabolic disorder resulting in impaired transport of long-chain fatty acids from the cytosol to the mitochondrial inner membrane, where fatty acid β-oxidation takes place. Here, we present an interesting clinical case of an adolescent male that presented with psychosis and a history of mild-to-moderate CPT II deficiency. To identify germline genetic variation that may contribute to the phenotypes observed, we performed whole-exome sequencing on DNA from the proband, unaffected fraternal twin, and biological parents. The proband was identified to be homozygous for the p.Val368Ile and heterozygous for the p.Met647Val variant in

Indexed as

carnitine palmitoyltransferase II (CPT II)dopamine-β-hydroxylasehypoglycemiametabolic deficiencypsychosisschizophreniaseizureswhole-exome sequencing (WES)

Identifiers

PMID41841040

DOI10.3390/reports3040031

PMCPMC12989197

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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 OpenQuestion graph.