Conditions / Genetic
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
info · Genetic
A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal
A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance.
Signs and symptoms
- Encephalopathy
- High-pitched cry
- Pulmonary hypoplasia
- Cerebellar hypoplasia
- Seizure
- Decreased activity of mitochondrial ATP synthase complex
- Nystagmus
- Irritability
- Apnea
- 3-Methylglutaconic aciduria
Also known as: MC5DN4B