Document Detail

Successful pregnancy in severe methylmalonic acidaemia.
MedLine Citation:
PMID:  10518278     Owner:  NLM     Status:  MEDLINE    
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.
M P Wasserstein; S Gaddipati; S E Snyderman; K Eddleman; R J Desnick; C Sansaricq
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  22     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1999 Oct 
Date Detail:
Created Date:  1999-12-21     Completed Date:  1999-12-21     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  788-94     Citation Subset:  IM    
Department of Human Genetics, Mount Sinai Medical Center, NY 10029, USA.
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MeSH Terms
Hydroxocobalamin / therapeutic use
Infant, Newborn
Metabolism, Inborn Errors / complications,  drug therapy
Methylmalonic Acid / blood*
Methylmalonyl-CoA Mutase / deficiency*
Pregnancy Complications*
Pregnancy Outcome*
Vitamin B 12 / therapeutic use
Grant Support
5 M01 RR00071/RR/NCRR NIH HHS; 5 P30 HD 28822/HD/NICHD NIH HHS
Reg. No./Substance:
13422-51-0/Hydroxocobalamin; 516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12; EC Mutase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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