Conditions / Genetic
mitochondrial complex III deficiency nuclear type 5
info · Genetic
A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
Signs and symptoms
- Increased circulating pyruvate concentration
- Increased circulating lactate concentration
- Hyperammonemia
- Hypoglycemia
- Metabolic acidosis
- Global developmental delay
- Episodic tachypnea
- Hyperalaninemia
- Decreased liver function
- Elevated circulating hepatic transaminase concentration