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First‐trimester diagnosis of an unusual case of α‐mannosidosis
Author(s) -
Petushkova N. A.
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970110502
Subject(s) - chorionic villi , pregnancy , first trimester , prenatal diagnosis , fetus , medicine , chorionic villus sampling , obstetrics , enzyme , gynecology , endocrinology , andrology , chemistry , biology , biochemistry , genetics
Chorionic villi obtained in the first trimester from a pregnancy at risk for α‐mannosidosis were shown to have reduced α‐mannosidase (EC 3.2.1.24) activity. The pregnancy was terminated and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of α‐mannosidosis. Like the enzyme in the child's fibroblast, α‐mannosidase of the chorionic villi from a pregnancy at risk for α‐mannosidosis was activated by high substrate concentration and by Zn 2 + , and displayed a K m value two‐fold higher than normal. Our results confirm that chorionic villi can be used for early prenatal diagnosis of α‐mannosidosis.