Methylmalonic acidaemia in pregnancyMethylmalonic acidaemia in pregnancy
Faculty of Medicine and Health Sciences
University Hospital Antwerp
Antwerp Surgical Training, Anatomy and Research Centre (ASTARC)
2014London :BMJ Pub. Group, 2014
BMJ case reports. - London, 2008, currens
University of Antwerp
A 27-year-old woman with vitamin B12 responsive form of methylmalonic acidaemia (MMA) was pregnant with her first child. Treatment was unaltered during pregnancy: a low-protein diet and supplements. Her pregnancy was uncomplicated. She had a spontaneous delivery of a healthy girl with no MMA. The postpartum period was uneventful. MMA is a rare autosomal recessive metabolic disorder caused by a deficiency of methylmalonyl coenzyme A mutase or its vitamin B12-dependent cofactor, leading to a toxic accumulation of methylmalonyl acid in plasma and urine. Clinical presentation involves otherwise unexplained deterioration and neurological dysfunction, recurrent vomiting, dehydration, lethargy, respiratory distress and muscular hypotonia. Long-term sequelae are neurological problems, renal failure, pancreatitis and cardiomyopathy. This is the 11th reported case of pregnancy in a woman with MMA.