Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency, presenting as Leigh encephalomyelopathy.
Incidence
rare (9 pts), eventually fatal. It is the most common presentation of COX deficiency.
Clinical Characteristics
Start with respiratory problems, weak cry, lactic acidosis.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-muscle, liver, brain, kidney, heart