Hyperammonemic crisis in a child with {ATP} synthase deficiency caused by mtDNA mutation m.8851T>C

摘要

Life-threatening hyperammonemia is uncommon in patients withmitochondrial disorders (MDs).When present, it is usualy due toTMEM70 deficiency [1] and only rarely is it noted in other MDs [2].Hyperammonemia was documented in patients with Barth syndrome[2], maternally inherited Leigh syndrome (MILS) [3], pyruvate dehydrogenasedeficiency [4], pyruvate carboxylase deficiency [5], complex IIIdeficiency caused by UQCRC2 deficiency [6], and patients with CoQ deficiency[7]. Here we present a fatal outcome due to newly documentedhyperammonemia in a previously reported girl with ATP synthase deficiencycaused by mutation m.8851TNC in mitochondrial MTATP6 [8].