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The decision to discontinue screening for carnitine uptake disorder in New Zealand

Overview of attention for article published in Journal of Inherited Metabolic Disease, April 2018
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Title
The decision to discontinue screening for carnitine uptake disorder in New Zealand
Published in
Journal of Inherited Metabolic Disease, April 2018
DOI 10.1007/s10545-018-0173-4
Pubmed ID
Authors

Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster

Abstract

When screening for carnitine uptake disorder (CUD), the New Zealand (NZ) newborn screening (NBS) service identified infants as screen-positive if they had initial and repeat free carnitine (C0) levels of less than 5.0 μmol/L. Since 2006, the NBS service has identified two infants with biochemical and genetic features consistent with neonatal CUD and nine mothers with features consistent with maternal CUD. A review of the literature suggests that these nine women reflect less than half the true prevalence and that CUD is relatively common. However, the NZ results (two infants) suggest a very low sensitivity and positive predictive value of NBS. While patients presenting with significant disease due to CUD are well described, the majority of adults with CUD are asymptomatic. Nonetheless, treatment with high-dose oral L-carnitine is recommended. Compliance with oral L-carnitine is likely to be poor long term. This may represent a specific risk as treatment could repress the usual compensatory mechanisms seen in CUD, such that a sudden discontinuation of treatment may be dangerous. L-carnitine is metabolized to trimethylamine-N-oxide (TMAO) and treated patients have extremely high plasma TMAO levels. TMAO is an independent risk factor for atherosclerosis and, thus, caution should be exercised regarding long-term treatment with high-dose carnitine of asymptomatic patients who may have a biochemical profile without disease. Due to these concerns, the NZ Newborn Metabolic Screening Programme (NMSP) initiated a review via a series of advisory and governance committees and decided to discontinue screening for CUD.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 5 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 5 100%

Demographic breakdown

Readers by professional status Count As %
Other 1 20%
Lecturer 1 20%
Student > Doctoral Student 1 20%
Student > Ph. D. Student 1 20%
Professor > Associate Professor 1 20%
Other 0 0%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 40%
Nursing and Health Professions 1 20%
Medicine and Dentistry 1 20%
Unknown 1 20%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 November 2018.
All research outputs
#12,289,470
of 15,467,277 outputs
Outputs from Journal of Inherited Metabolic Disease
#1,107
of 1,368 outputs
Outputs of similar age
#209,549
of 280,689 outputs
Outputs of similar age from Journal of Inherited Metabolic Disease
#40
of 49 outputs
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So far Altmetric has tracked 1,368 research outputs from this source. They receive a mean Attention Score of 3.3. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
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We're also able to compare this research output to 49 others from the same source and published within six weeks on either side of this one. This one is in the 6th percentile – i.e., 6% of its contemporaries scored the same or lower than it.