Pregnancy and Homocystinuria

Abstract

Ten children have been born to five parents (four female, one male) with cystathionine synthase deficient homocystinuria. All the patients were pyridoxine responsive. The children are well except for one with Down's syndrome. Eight of the 10 children have no homocystine in the blood or urine and must be heterozygotes. The other two have small amounts of homocystine, and their genetic status is uncertain. The results are encouraging with regard to pregnancy and its outcome, but it is emphasised that the results might be very different in patients who do not respond to pyridoxine and become pregnant having high plasma methionine and homocystine values.