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Article

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

European journal of human genetics : EJHG - 1 Mar 2016

Danhauser Katharina, Herebian Diran, Haack Tobias B, Rodenburg Richard J, Strom Tim M, Meitinger Thomas, Klee Dirk, Mayatepek Ertan, Prokisch Holger, Distelmaier Felix

Abstract excerpt

Coenzyme Q10 (CoQ10) has an important role in mitochondrial energy metabolism by way of its functioning as an electron carrier in the respiratory chain. Genetic defects disrupting the endogenous biosynthesis pathway of CoQ10 may lead to severe metabolic disorders with onset in early childhood. Using exome sequencing in a child with fatal neonatal lactic acidosis and encephalopathy, we identified a homozygous...

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Source

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Identifiers

PMID: 26081641
DOI: 10.1038/ejhg.2015.133
PMCID: PMC4755375

Genes

COQ9
COQ7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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