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GTR Home > Conditions/Phenotypes > 3-methylglutaconic aciduria, type VIIA

3-methylglutaconic aciduria, type VIIA

Synonyms
3-METHYLGLUTACONIC ACIDURIA WITH NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, AUTOSOMAL DOMINANT

Summary

3-Methylglutaconic aciduria (MGCA7) is an inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia. The phenotype is highly variable: most patients have infantile onset of a severe progressive encephalopathy with various movement abnormalities and delayed psychomotor development. Other common variable features include seizures, recurrent infections due to neutropenia, anemia, and brain imaging abnormalities (Wortmann et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANKCLB, ANKCLP, HSP78, MEGCANN, MGCA7, MGCA7A, SCN9, SKD3, CLPB
    Summary: ClpB family mitochondrial disaggregase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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