| Successful pregnancy in severe methylmalonic acidaemia. | |
MedLine Citation:
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PMID: 10518278 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Methylmalonic acidaemia is an inborn error of metabolism characterized by recurrent episodes of life-threatening ketoacidosis. With improved and intensive treatment, these patients are living into adulthood, but many experience late-onset disease complications such as chronic renal failure, chronic pancreatitis and osteopenia. We report the successful delivery of a healthy baby to a 20-year-old woman with vitamin B12-unresponsive methylmalonic acidaemia who has these late-onset manifestations of the disease and had plasma methylmalonic acid concentrations of 1900 mumol/L during the first trimester of pregnancy. |
Authors:
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M P Wasserstein; S Gaddipati; S E Snyderman; K Eddleman; R J Desnick; C Sansaricq |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 22 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1999 Oct |
Date Detail:
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Created Date: 1999-12-21 Completed Date: 1999-12-21 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 788-94 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, Mount Sinai Medical Center, NY 10029, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis Adult Female Humans Hydroxocobalamin / therapeutic use Infant, Newborn Male Metabolism, Inborn Errors / complications, drug therapy Methylmalonic Acid / blood* Methylmalonyl-CoA Mutase / deficiency* Pregnancy Pregnancy Complications* Pregnancy Outcome* Vitamin B 12 / therapeutic use |
| Grant Support | |
ID/Acronym/Agency:
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5 M01 RR00071/RR/NCRR NIH HHS; 5 P30 HD 28822/HD/NICHD NIH HHS |
| Chemical | |
Reg. No./Substance:
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13422-51-0/Hydroxocobalamin; 516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12; EC 5.4.99.2/Methylmalonyl-CoA Mutase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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