Carrier State in Human Acatalasemia

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Science  07 Aug 1959:
Vol. 130, Issue 3371, pp. 333-334
DOI: 10.1126/science.130.3371.333


The heterozygous carrier state of a rare hereditary disease, acatalasemia, has been defined biochemically. Affected homozygotes have no blood catalase activity, whereas heterozygotes show activities intermediate between this inactivity and the activity of normal controls, without overlap. Pedigrees show a high frequency of consanguineous marriages.