cytochrome C oxidase deficiency; mitochondrial complex IV deficiency; COX deficiency

Genetics

• associated with defects in COX6B1, COX10, COX15 genes
• associated defects in SCO1
• associated with defects in MT-CO1, MT-CO2, MT-CO3

Clinical manifestations

• clinically heterogeneous disorder
  • ranging from isolated myopathy to severe multisystem disease
  • features include
    • hypertrophic cardiomyopathy
    • hepatomegaly & liver dysfunction
    • hypotonia
    • muscle weakness
    • excercise intolerance
    • developmental delay
    • delayed motor development
    • mental retardation
  • a subset of patients manifest Leigh syndrome
• onset from infancy to adulthood

More general terms

• enzyme deficiency

Additional terms

• cytochrome c oxidase (complex IV)

Database

• OMIM: https://mirror.omim.org/entry/220110