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

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Associated genes

Clinical features

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  • Muscle weakness
  • Intellectual disability
  • Nonprogressive cerebellar ataxia
  • Intrauterine growth retardation
  • Glutaric aciduria
  • Postnatal growth retardation
  • Sudden cardiac death
  • Noncompaction cardiomyopathy
  • 3-Methylglutaric aciduria
  • Cryptorchidism
  • Hypospadias
  • Optic atrophy
  • Microvesicular hepatic steatosis
  • Congestive heart failure
  • Dilated cardiomyopathy
  • Prolonged QT interval
  • Normochromic microcytic anemia
  • Decreased testicular size
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