combined oxidative phosphorylation deficiency 28

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1.

Signs and symptoms

Polyhydramnios
Ragged-red muscle fibers
Global developmental delay
Poor appetite
Increased circulating lactate concentration
Decreased activity of mitochondrial complex I
Fatigue
Decreased fetal movement
Congestive heart failure
Respiratory failure

Also known as: COXPD28; neonatal severe cardiopulmonary failure due to mitochondrial methylation defect