AbstractMethylmalonic aciduria (MMA) and homocystinuria, cblC type is the most frequent inborn error of vitamin B12. CblC patients present with a heterogeneous clinical picture.
To date, the early prenatal diagnosis of MMA and homocystinuria, cblC type is performed by determination of methylmalonic acid and total homocysteine (Hcy) in amniotic fluid supernatant. In this paper we report a case of prenatal diagnosis, using genetic analysis, of MMA and homocystinuria, cblC type in an at risk couple. Direct sequencing analysis of the amplified products of chorionic villi biopsy extracted DNA showed normal sequence in the fetal DNA. Mutation analysis of the MMACHC gene is more cost-effective and less time-consuming than the biochemical approach. Early prenatal treatment may have an impact on the long-term complications associated with cblC disease. Future studies with the aim of determining the long-term benefits of daily parenteral OHCbl started soon after conception in at risk mothers should be considered. In this context early prenatal diagnosis could determine whether therapy needs to be continued.