Conditions / Genetic

mitochondrial complex V (ATP synthase) deficiency nuclear type 5

info · Genetic

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.

Signs and symptoms

  • Lethargy
  • Decreased activity of mitochondrial ATP synthase complex
  • Hypoglycemia
  • Hyperammonemia
  • Exercise intolerance
  • 3-Methylglutaconic aciduria
  • Encephalopathy
  • Bilateral tonic-clonic seizure
  • Elevated circulating creatine kinase activity
  • Ketoacidosis

Also known as: MC5DN5