Methylmalonate excretion in a pregnancy at risk for methylmalonic acidaemia

Clin Chim Acta. 1978 Jun 15;86(3):349-52. doi: 10.1016/0009-8981(78)90392-3.

Abstract

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.

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Malonates / urine*
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / metabolism
  • Methylmalonic Acid / blood
  • Methylmalonic Acid / urine*
  • Pregnancy
  • Pregnancy Trimester, Second
  • Pregnancy Trimester, Third
  • Prenatal Diagnosis*
  • Risk

Substances

  • Malonates
  • Methylmalonic Acid