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First-trimester diagnosis of an unusual case of alpha-mannosidosis

N A Petushkova1

  • 1Institute of Biologial and Medical Chemistry, Academy of Medical Sciences of the U.S.S.R., Moscow.

Prenatal Diagnosis
|May 1, 1991
PubMed

Chorionic villi obtained in the first trimester from a pregnancy at risk for alpha-mannosidosis were shown to have reduced alpha-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 alpha-mannosidosis. Like the enzyme in the child's fibroblast, alpha-mannosidase of the chorionic villi from a pregnancy at risk for alpha-mannosidosis was activated by high substrate concentration and by Zn2+, and displayed a Km value two-fold higher than normal. Our results confirm that chorionic villi can be used for early prenatal diagnosis of alpha-mannosidosis.

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