Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia.
In a pregnant woman, who had given birth to a child with methylmalonic acidaemia previously, urinary methylmalonate was measured at various intervals in the second half of the pregnancy. A significant increase was observed towards term. The child proved to be affected. This procedure enabled the detection of an affected fetus in the third trimester of pregnancy. If a case of methylmalonic acidaemia is detected in this way, treatment can be started immediately after birth.
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D008764:Methylmalonic Acid / Q000097:blood / Q000652:urine*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D012306:Risk
D008314:Malonates; D008764:Methylmalonic Acid