combined oxidative phosphorylation deficiency 26

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1.

Signs and symptoms

Cirrhosis
Muscle weakness
Lactic acidosis
Exertional dyspnea
Exercise intolerance
Increased circulating lactate concentration
Spasticity
Poor speech
Hypertonia
Difficulty standing

Also known as: COXPD26