This report describes mitochondrial complex IV deficiency, nuclear type 4 (MC4DN4); MC4DN4 exhibits autosomal recessive inheritance. The human gene implicated in this disease is SCO1, 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 MC4DN2 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 4; MC4DN4](https://omim.org/entry/619048)
[SYNTHESIS OF CYTOCHROME c OXIDASE 1; SCO1](https://omim.org/entry/603644)
Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy. Affected individuals show hypotonia, failure to thrive, and neurologic distress. Additional features include hepatomegaly, hepatic steatosis, increased serum lactate, and metabolic acidosis. Some patients may develop hypertrophic cardiomyopathy. [from MIM:619048; 2021.02.26]
Mitochondrial complex IV deficiency nuclear type 4 (MC4DN4) is caused by homozygous or compound heterozygous mutation in the SCO1 gene. [from MIM:619048; 2021.02.26]
