Adenosine-deaminase deficiency in a child diagnosed prenatally.
Deficiency of red-blood-cell adenosine deaminase (R.B.C.-A.D.A.) has been reported in a proportion of patients with the autosomal recessive form of severe combined immunodeficiency (S.C.I.D.). In a family in which a child had died with S.C.I.D., R.B.C.-A.D.A. levels in the parents and other members of the family were compatible with a heterozygous state for A.D.A. deficiency. Cultured amniotic-fluid cells obtained from a subsequent pregnancy contained less than 1.5% of A.D.A. activity of normal amniotic cultures. The prenatal diagnosis of A.D.A. deficiency was confirmed at birth by the absence of A.D.A. ACTIVITY IN THE CHILD'S RED-BLOOD-CELLS. Clinical and laboratory findings in this child are similar to those of the sibling who had died with S.C.I.D.
D000619:Aminohydrolases / Q000172:deficiency*; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology; D004796:Clinical Enzyme Tests; D004586:Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D007136:Immunoglobulins / Q000302:isolation & purification; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007527:Isoenzymes / Q000032:analysis; D007958:Leukocyte Count; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis
D007136:Immunoglobulins; D007527:Isoenzymes; D000619:Aminohydrolases