mitochondrial complex III deficiency nuclear type 6 (DOID:0080115)
Alliance: disease page
Alt IDs: OMIM:615453
Definition: A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24.