Krankheit

Alpha-Methyl-Acetoacetyl-CoA Thiolase-Mangel

ALPHA-METHYLACETOACETIC ACIDURIA

OMIM: 203750

Synonyme

  • MAT-Mangel
  • 2-METHYL-3-HYDROXYBUTYRIC ACIDEMIA
  • BETA-KETOTHIOLASE DEFICIENCY
  • MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
  • MAT DEFICIENCY
  • T2 DEFICIENCY

Gen locations