mitochondrial complex III deficiency nuclear type 1

A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutati

A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.

Signs and symptoms

• Decreased liver function
• Periportal fibrosis
• Decreased activity of mitochondrial complex III
• Global developmental delay
• Microvesicular hepatic steatosis
• Elevated lactate:pyruvate ratio
• Failure to thrive
• Recurrent hypoglycemia
• Hypoglycemia
• Elevated circulating hepatic transaminase concentration