{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:31:34Z","timestamp":1764102694901,"version":"3.40.4"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2014,2,27]]},"abstract":"<jats:p>A 27-year-old woman with vitamin B<jats:sub>12<\/jats:sub>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 B<jats:sub>12<\/jats:sub>-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.<\/jats:p>","DOI":"10.1136\/bcr-2014-203723","type":"journal-article","created":{"date-parts":[[2014,3,31]],"date-time":"2014-03-31T13:50:12Z","timestamp":1396273812000},"page":"bcr2014203723","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Methylmalonic acidaemia in pregnancy"],"prefix":"10.1136","volume":"2014","author":[{"given":"Yves","family":"Jacquemyn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke","family":"Den Hartog","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francois","family":"Eyskens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2014,3,31]]},"reference":[{"key":"2025042703063500000_2014.mar31_1.bcr2014203723.1","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1542\/peds.67.1.26","article-title":"Massachusetts metabolic disorders screening program II. 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