先天代謝異常症の出生前診断

Prenatal diagnosis of inborn errors of metabolism

　先天代謝異常症の中にはフェニルケトン尿症やガラクトース血症のように，早期に診断し食事療法を開始すれば中枢神経障害の発生を防ぎうる疾患もあるが，リビドーシスの大部分は未だ有効な治療法がない。こうした疾患に対しては遺伝負荷の高い妊娠に際し両親の希望により胎児診断が行なわれている1〜5）。

Abstract

Recent development of prenatal diagnosis for inborn errors of metabolism has been reviewed.

In the first place, prenatal diagnosis by the amniocenthesis in the second trimester was de-scribed. Amniotic fluid, uncultured amniotic cells, and cultured amniotic cells have been used for the diagnosis. The measurement of the activity of an enzyme, which is defective in an inborn error disorder, using the cultured amniotic cells is most reliable for the diagnosis. Analyses of metabo-lites in amniotic fluid may be helpful in the dis-orders such as organic acidemias or mucopolysac-charidosis.