Conditions / Genetic

3-methylglutaconic aciduria type 8

info · Genetic

A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13.

Signs and symptoms

  • Elevated brain lactate level by MRS
  • Failure to thrive
  • 3-Methylglutaric aciduria
  • Feeding difficulties
  • 3-Methylglutaconic aciduria
  • Respiratory failure
  • Hypertonia
  • Dystonia
  • Generalized hypotonia
  • Ventriculomegaly

Also known as: 3-methylglutaconic aciduria type VIII, MGCA8