Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes View Full Text


Ontology type: schema:Chapter      Open Access: True


Chapter Info

DATE

2016

AUTHORS

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

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. More... »

PAGES

57-62

Book

TITLE

JIMD Reports, Volume 31

ISBN

978-3-662-54118-0
978-3-662-54119-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/8904_2016_557

DOI

http://dx.doi.org/10.1007/8904_2016_557

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016448325

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27074787


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