Oláhová M1, Yoon WH2, Thompson K1, Jangam S3, Fernandez L4, Davidson JM4, Kyle JE5, Grove ME6, Fisk DG6, Kohler JN4, Holmes M1, Dries AM4, Huang Y4, Zhao C4, Contrepois K7, et al.
Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia.