title: First-trimester diagnosis of an unusual case of alpha-mannosidosis.
abstract: 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.
authors.affiliation: Institute of Biologial and Medical Chemistry, Academy of Medical Sciences of the U.S.S.R., Moscow.
authors.forename: N A
authors.initials: NA
authors.lastname: Petushkova
mesh_terms: D001921:Brain / Q000378:metabolism; D002823:Chorion / Q000378:metabolism; D015193:Chorionic Villi Sampling; D005260:Female; D005333:Fetus / Q000378:metabolism; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008361:Mannosidases / Q000172:deficiency; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D015032:Zinc / Q000494:pharmacology; D043323:alpha-Mannosidase; D008363:alpha-Mannosidosis / Q000175:diagnosis*; D001616:beta-Galactosidase / Q000096:biosynthesis; D001619:beta-N-Acetylhexosaminidases / Q000096:biosynthesis
chemical_list: D008361:Mannosidases; D001616:beta-Galactosidase; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases; D015032:Zinc