Genomic coordinate (human 11:34,438,934 CAT) & (mouse 2:103,284,249 CAT).
Cytoband (human 11p13 CAT) & (mouse 2qE1 CAT).
Here I present: “Acatalasemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CAT) icd10=E80.3
Acatalasemia is an usually asymptomatic, autosomal recessive metabolic disorder caused by CAT gene mutations that result in little or no catalase enzyme activity (Enzyme Commission number #1.11.1.6). It causes hydrogen peroxide buildup, leading to potential oral gangrene (Takahara’s disease), type 2 diabetes, or atherosclerosis. It is often diagnosed via a blood-hydrogen peroxide test and managed with good oral hygiene.
Acatalasemia is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia.
There is evidence that acatalasemia is caused by mutation in catalase (CAT) gene encoded on genomic coordinate 11:34,438,934 and cytoband 11p13 in humans.
