Conditions / Genetic

3-methylglutaconic aciduria type 4

info · Genetic

A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.

Signs and symptoms

  • Subvalvular aortic stenosis
  • Inguinal hernia
  • 3-Methylglutaric aciduria
  • Biventricular hypertrophy
  • Global developmental delay
  • Areflexia
  • Severe global developmental delay
  • Cerebellar dysplasia
  • Single transverse palmar crease
  • Neonatal hypotonia

Also known as: 3-methylglutaconic aciduria type IV; MGA type IV; MGA4; MGCA4