mitochondrial complex IV deficiency nuclear type 23

info · Genetic

A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22.

Signs and symptoms

Brain atrophy
Increased circulating lactate concentration
Inguinal hernia
Hypotonia
Rigidity
Elevated brain lactate level by MRS
Gastroesophageal reflux
Abdominal distention
Percussion myotonia
Hypoglycemia

Also known as: MC4DN23