Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency with Fanconi syndrome
Incidence
Very rare (7 pts), fatal
Clinical Characteristics
Neonatal onset, death by 4 months. Severe lactic acidosis in newborns,
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-muscle, liver, brain, kidney, heart. Renal tubular functions.