mitochondrial complex III deficiency nuclear type 6

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

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.

Signs and symptoms

• Episodic ketoacidosis
• Ketoacidosis
• Vomiting
• Decreased activity of mitochondrial complex III
• Increased circulating lactate concentration
• Hyperglycemia
• Elevated lactate:pyruvate ratio
• Ketonuria
• Dehydration
• Hyperammonemia