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Title
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Methylmalonic acidaemia in pregnancy
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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BMJ case reports. - London, 2008, currens
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Publication
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London
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BMJ Pub. Group
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2014
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ISSN
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1757-790X
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DOI
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10.1136/BCR-2014-203723
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Volume/pages
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(2014)
, p. 1-3
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Full text (Publisher's DOI)
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