Conditions / Genetic

combined oxidative phosphorylation deficiency 1

info · Genetic

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32.

Signs and symptoms

  • Hypertonia
  • Cholestasis
  • Elevated lactate:pyruvate ratio
  • Metabolic acidosis
  • Hypoplasia of the corpus callosum
  • Decreased activity of mitochondrial complex III
  • Decreased activity of mitochondrial ATP synthase complex
  • Decreased activity of mitochondrial complex I
  • Decreased activity of mitochondrial complex IV
  • Fulminant hepatic failure

Also known as: COXPD1; early fatal progressive hepatoencephalopathy; hepatoencephalopathy due to COXPD1; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1