combined oxidative phosphorylation defect type 4

Rare Disease

MONDO:0012534

Also Known As

COXPD4TUFM combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 4combined oxidative phosphorylation deficiency caused by mutation in TUFMcombined oxidative phosphorylation deficiency type 4combined oxidative phosphorylation deficiency 4

Definition

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.