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GTR Home > Conditions/Phenotypes > 3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria type 9

Synonyms
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

3-Methylglutaconic aciduria type IX (MGCA9) is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MGCA9, TIM50, TIM50L, TIMM50
    Summary: translocase of inner mitochondrial membrane 50

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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