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GTR Home > Conditions/Phenotypes > 3-methylglutaconic aciduria type 8

3-methylglutaconic aciduria type 8

Synonyms
3-methylglutaconic aciduria, type VIII

Summary

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). [from OMIM]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MGCA8, OMI, PARK13, PRSS25, HTRA2
    Summary: HtrA serine peptidase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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