Respiratory chain complexes defects: Complex I deficiency, fatal infantile form.
Incidence
Very rare. 4 patients reported. No cases reported in Saudi Arabia.
Clinical Characteristics
Severe congenital lactic acidosis and hypotonia, death by 4 months to before 1 year. Tachypnea, apneic episodes weakness, hypotonia, anorexia. Multisystem involvement. Abnormal EEG. Dysmyelination.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
EB-muscle mitochondria, EB-liver mitochondria, EB-F. In muscle biopsy accumulation of very large mitochondria, increase in lipids and glycogen have been found.