Acatalasemia

What is Acatalasemia?

A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.

Other condition names

  • Catalase deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-9 in 100,000

Age of Onset

  • All ages
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.