Prenatal diagnosis of disorders of galactose metabolism.
Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.
Holton
J B
JB
Department of Clinical Chemistry, Southmead Hospital, Bristol, UK.
Allen
J T
JT
Gillett
M G
MG
D005260:Female; D005686:Galactokinase / Q000172:deficiency*; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005686:Galactokinase; D005690:Galactose