combined oxidative phosphorylation deficiency 30

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.

Signs and symptoms

Hypotonia
Elevated circulating alanine aminotransferase concentration
Failure to thrive
Respiratory failure
Absent otoacoustic emissions
Cytochrome C oxidase-negative muscle fibers
Lactic acidosis
Ragged-red muscle fibers
Feeding difficulties
Increased circulating lactate concentration

Also known as: COXPD30