Methylmalonic aciduria in pregnancy: a case report.
case_report · Level V
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- Record sourced from PubMed, PMID 7892853.
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Abstract
Methylmalonic aciduria is a rare metabolic disorder of amino acid metabolism that is characterized by accumulation of large amounts of methylmalonic acid in the blood and urine. To our knowledge this is the first case report of a patient with methylmalonic aciduria who carried a pregnancy to term; the outcome was favorable despite high levels of methylmalonic acid in the serum and urine.
Medical subject headings
- Metabolism, Inborn Errors
- Methylmalonic Acid
- Pregnancy Complications