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GTR Home > Conditions/Phenotypes > Mitochondrial complex 4 deficiency, nuclear type 19

Mitochondrial complex 4 deficiency, nuclear type 19

Synonyms
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19

Summary

Mitochondrial complex IV deficiency nuclear type 19 (MC4DN19) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms in infancy or early childhood. Affected individuals show global developmental delay and developmental regression with a loss of acquired motor and language skills. Additional features include motor dysfunction, such as hypokinesia and pyramidal signs. More variable features may include recurrent infections with immunodeficiency and possibly protein-losing enteropathy. Serum lactate is increased; T2-weighted lesions in the medulla oblongata have also been reported. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (Renkema et al., 2017). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CSRP2BP, MC4DN19, PET117
    Summary: PET117 cytochrome c oxidase chaperone

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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