Publication
Title
Methylmalonic acidaemia in pregnancy
Author
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.
Language
English
Source (journal)
BMJ case reports. - London, 2008, currens
Publication
London : BMJ Pub. Group, 2014
ISSN
1757-790X
Volume/pages
(2014), p. 1-3
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Record
Identification
Creation 23.04.2014
Last edited 24.02.2017
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