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

Summary

3-Methylglutaconic aciduria type V is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012). For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). [from OMIM]

Available tests

47 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: PAM18, TIM14, TIMM14, DNAJC19
    Summary: DnaJ heat shock protein family (Hsp40) member C19

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