This report describes mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2); MC4DN2 exhibits autosomal recessive inheritance. The human gene implicated in this disease is SCO2, a nuclear gene that encodes a protein that functions in the mitochondria and is required for cytochrome c oxidase (COX) assembly. For information on a Drosophila model of this and the related disease MC4DN4 see the human disease model report 'mitochondrial complex IV deficiency, nuclear type, SCO1,2-related' (FBhh0000365).
[updated Feb. 2021 by FlyBase; FBrf0222196]
Mitochondrial complex IV deficiency (cytochrome c oxidase deficiency) is clinically heterogeneous, ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood. [from MIM:220110; 2016.08.12]
[MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2; MC4DN2](https://omim.org/entry/604377)
[SCO CYTOCHROME c OXIDASE ASSEMBLY PROTEIN 2; SCO2](https://omim.org/entry/604272)
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. [from MIM:604377; 2021.02.26]
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is caused by homozygous or compound heterozygous mutation in the SCO2 gene. [from MIM:604377; 2021.02.26]
