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acatalasia

Pronunciation: ā-kat′ă-lā′zē-ă

Definition: Absence or deficiency of catalase from blood and tissues, often manifested by recurrent infection or ulceration of the gingivae (gums) and related oral structures and caused by mutations in the catalase gene (CAT) on 11p. Homozygotes may have complete absence (Japanese variety) or very low levels (Swiss variety) of catalase; heterozygotes have reduced catalase levels (hypocatalasia), which overlap with the normal range.

Synonym(s): acatalasemia, Takahara disease

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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