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JIMD Reports, Volume 31

Overview of attention for book
Cover of 'JIMD Reports, Volume 31'

Table of Contents

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    Book Overview
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    Chapter 543 Glycine N -Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
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    Chapter 544 Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders
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    Chapter 545 Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
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    Chapter 546 Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
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    Chapter 548 Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
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    Chapter 549 Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease
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    Chapter 550 Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
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    Chapter 551 Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency
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    Chapter 552 Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency
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    Chapter 554 Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots
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    Chapter 555 N -Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels
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    Chapter 557 Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
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    Chapter 558 Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
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    Chapter 563 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
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    Chapter 565 Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency
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    Chapter 577 Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
Attention for Chapter 557: Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
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Chapter title
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
Chapter number 557
Book title
JIMD Reports, Volume 31
Published in
JIMD Reports, April 2016
DOI 10.1007/8904_2016_557
Pubmed ID
27074787
Book ISBNs
978-3-66-254118-0, 978-3-66-254119-7
Authors

Anastasio, Natascia, Tarailo-Graovac, Maja, Al-Khalifah, Reem, Legault, Laurent, Drogemoller, Britt, Ross, Colin J D, Wasserman, Wyeth W, van Karnebeek, Clara, Buhas, Daniela, Natascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, Laurent Legault, Britt Drogemoller, Colin J.D. Ross, Wyeth W. Wasserman, Clara van Karnebeek, Daniela Buhas, Ross, Colin J.D., Wasserman, Wyeth W.

Abstract

Hyperglycemia is a rare presenting symptom of mitochondrial disorders. We report a case of a young girl who presented shortly after birth with ketoacidosis, hyperlactatemia, hyperammonemia, and insulin-responsive hyperglycemia. Initial metabolic work-up suggested mitochondrial dysfunction. Given our patient's unusual presentation, whole-exome sequencing (WES) was performed on the parent-offspring trio. The patient was homozygous for the c.643C>T (p.Leu215Phe) variant in CYC1, a nuclear gene which encodes cytochrome c 1 , a subunit of respiratory chain complex III. Variants in this gene have only been previously reported in two patients with similar presentation, one of whom carries the same variant as our patient who is also of Sri Lankan origin.Primary complex III deficiencies are rare and its phenotypes can vary significantly, even among patients with the same genotype.

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

Mendeley readers

The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 11 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 36%
Student > Bachelor 2 18%
Student > Doctoral Student 1 9%
Researcher 1 9%
Professor > Associate Professor 1 9%
Other 0 0%
Unknown 2 18%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 27%
Agricultural and Biological Sciences 2 18%
Medicine and Dentistry 2 18%
Neuroscience 1 9%
Unknown 3 27%
Attention Score in Context

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 April 2016.
All research outputs
#20,320,000
of 22,862,742 outputs
Outputs from JIMD Reports
#484
of 545 outputs
Outputs of similar age
#254,733
of 300,620 outputs
Outputs of similar age from JIMD Reports
#3
of 6 outputs
Altmetric has tracked 22,862,742 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 545 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.

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