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GTR Home > Conditions/Phenotypes > Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Synonyms
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2

Summary

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. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

64 tests are in the database for this condition.

Clinical tests (64 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, TP, TYMP, TdRPase, SCO2
    Summary: synthesis of cytochrome C oxidase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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