title: Methylmalonic acidaemia in pregnancy.
abstract: 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.
authors.affiliation: Department of Obstetrics, UZA, Edegem, Belgium.
authors.forename: Yves
authors.initials: Y
authors.lastname: Jacquemyn
authors.forename: Marieke
authors.initials: M
authors.lastname: Den Hartog
authors.forename: Francois
authors.initials: F
authors.lastname: Eyskens
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000628:therapy*; D002119:Calcium Carbonate / Q000008:administration & dosage; D002331:Carnitine / Q000008:administration & dosage; D018753:Diet, Protein-Restricted; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D011247:Pregnancy; D011248:Pregnancy Complications / Q000628:therapy*; D014805:Vitamin B 12 / Q000008:administration & dosage; D014803:Vitamin B Complex / Q000008:administration & dosage; D019287:Zinc Sulfate / Q000008:administration & dosage
chemical_list: D014803:Vitamin B Complex; D019287:Zinc Sulfate; D002119:Calcium Carbonate; D014805:Vitamin B 12; D002331:Carnitine