combined oxidative phosphorylation deficiency 43

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.

Signs and symptoms

Projectile vomiting
Elevated circulating creatine kinase activity
Delayed CNS myelination
Decreased activity of mitochondrial complex III
Acetabular dysplasia
Increased circulating lactate concentration
Gastroesophageal reflux
Decreased activity of mitochondrial complex I
Small for gestational age
Feeding difficulties in infancy

Also known as: COXPD43