Conditions / Genetic

3-methylglutaconic aciduria type 5

info · Genetic

A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26.

Signs and symptoms

  • Failure to thrive
  • Postnatal growth retardation
  • 3-Methylglutaric aciduria
  • 3-Methylglutaconic aciduria
  • Cryptorchidism
  • Normochromic microcytic anemia
  • Dilated cardiomyopathy
  • Mild intellectual disability
  • Ataxia
  • Decreased testicular size

Also known as: 3-methylglutaconic aciduria type V; DCMA; DCMA syndrome; MGA5; MGCA5