mitochondrial complex III deficiency nuclear type 3

A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22.

Signs and symptoms

• Elevated circulating aspartate aminotransferase concentration
• Decreased activity of mitochondrial complex III
• Increased circulating lactate concentration
• Hepatomegaly
• Hypoglycemia
• Alaninuria
• Metabolic acidosis
• Elevated circulating alanine aminotransferase concentration
• Neurodevelopmental abnormality