Evidence map›Paper›PMID 34020866›Full record

ArticleMolecular genetics and metabolism2021

Successful orthotopic heart transplantation in CPTII deficiency.

Georgianne L Arnold, Jessie Yester, Elizabeth McCracken, Brian D Feingold, Jerry Vockley

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

Article in Molecular genetics and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 94% 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 synthesis or guideline pooled it, 0 citations in OpenAlex.

  1. Guideline
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

5 authors at 1 institution in 1 country.

Georgianne L ArnoldUniversity of Pittsburgh Medical Center, USA. Electronic address: Georgianne.arnold4@chp.edu.
Jessie YesterUniversity of Pittsburgh Medical Center, USA.
Elizabeth McCrackenUniversity of Pittsburgh Medical Center, USA.
Brian D FeingoldUniversity of Pittsburgh Medical Center, USA.
Jerry VockleyUniversity of Pittsburgh Medical Center, USA.
University of Pittsburgh Medical Center · US

Funding

Research Training Program for Pediatric Subspecialty FellowsT32HD071834 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI TERENCE S. DERMODY · 2013 to 2026
$4.7M
Inborn Errors of Long Chain Fat MetabolismR01DK078775 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI VOCKLEY, GERARD · 2008 to 2019
$4.5M
NICHD NIH HHS T32 HD071834NIDDK NIH HHS R01 DK078775
6 · The paper itself

Abstract

Carnitine palmitoyl transferase II (CPT II) catalyzes the release of activated long-chain fatty acids from acylcarnitines into mitochondria for subsequent fatty acid oxidation. Depending on residual enzyme activity, deficiency of this enzyme leads to a spectrum of symptoms from early onset hypoglycemia, hyperammonemia, cardiomyopathy and death to onset of recurrent rhabdomyolysis in adolescents and young adults. We present a case of successful orthotopic heart transplantation in a patient with severe infantile onset cardiomyopathy due to CPT II deficiency identified through newborn screening. Excellent cardiac function is preserved 12 years post-transplantation; however, the patient has developed intermittent episodes of hyperammonemia and rhabdomyolysis later in childhood and early adolescence readily resolved with intravenous glucose. Successful heart transplant in this patient demonstrates the feasibility of this management option in patients with even severe forms of long chain fatty acid oxidation disorders.

Indexed as

AdolescentAdultAge of OnsetCardiomyopathiesCarnitine O-PalmitoyltransferaseFatty AcidsHeartHeart TransplantationHumansHyperammonemiaHypoglycemiaInfant, NewbornMetabolism, Inborn ErrorsNeonatal ScreeningRhabdomyolysisYoung AdultCarnitine O-PalmitoyltransferaseFatty AcidsCardiomyopathyCarnitine palmitoyl transferase deficiencyCPT2 deficiencyFatty acid oxidation disorderHeart transplantation

Identifiers

PMID34020866
PMCPMC8899800
OpenAlexW3159210267

What OpenQuestion holds

Textmetadata
LicenceTDM
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.