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GTR Home > Conditions/Phenotypes > Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Synonyms
Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; Cytochrome c oxidase deficiency, French Canadian type; Leigh syndrome, French Canadian type; Leigh syndrome, Saguenay Lac saint Jean type; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLONE-23970, GP130, LRP130, LSFC, MC4DN5, LRPPRC
    Summary: leucine rich pentatricopeptide repeat containing

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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