Prenatal diagnosis of disorders of galactose metabolism was done in one instance in a family with a known galactokinase deficiency and in six cases in five families at risk for galactosemia. The galactokinase activity in cultured amniotic cells was found to be normal, and the diagnosis was confirmed postnatally. In the six pregnancies at risk for galactosemia, four were considered to be unaffected and two to be affected.
View Article and Find Full Text PDFAm J Hum Genet
January 1976
Deficiency of alpha-L-fucosidase in plasma and leukocytes has been demonstrated in three patients affected with fucosidosis. The measurement of plasma fucosidase activity alone is of little diagnostic value. Several normal individuals were found to have extremely low plasma alpha-L-fucosidase activity, but normal activity in leukocyte preparations.
View Article and Find Full Text PDFBirth Defects Orig Artic Ser
October 1976
Galactose is converted to galactonic acid in vivo in man. Galactonate was isolated from the urine of galactosemia patients who had been given galactose orally. The identity of the galactonate was established by gas-liquid chromatography and by the preparation of derivatives.
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