Document Detail

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
MedLine Citation:
PMID:  16150626     Owner:  NLM     Status:  MEDLINE    
Vitamin B12 (cobalamin) is an essential cofactor for two enzymes: methionine synthase (MS), which requires methylcobalamin (MeCbl), and methylmalonyl-CoA mutase (MUT), which requires adenosylcobalamin (AdoCbl). A number of individually rare inborn errors of cobalamin metabolism are known and are distinguished by complementation analysis (mut, cblA-cblH). From 1984 to 2005, we have performed prenatal diagnosis for 117 high-risk pregnancies. We identified a total of 21 affected pregnancies (18%): cblA, 2/8; cblB, 0/5; cblC, 10/52; cblE, 2/3; cblF, 0/5; cblG, 0/5; transcobalamin deficiency, 0/2; methylmalonyl-CoA mutase (mut) deficiency, 7/30; and unclassified MMA, 0/7. Studies were performed on amniotic fluid, cultured chorionic villus cells (CCVC), cultured amniocytes (CA), or various combinations of these three types of sample. Analyses done include propionate and methyltetrahydrofolate incorporation into protein and cobalamin cofactor levels (CA: 92%, CCVC: 18%), amniotic fluid metabolite measurement either by gas chromatography/mass spectrometry (GC/MS) or by liquid chromatography-tandem mass spectrometry (LC-MS/MS) (49%), and direct mutation analysis (5%). There was one false negative CCVC result in a pregnancy at risk for cblC and one false positive CCVC in a pregnancy at risk for mutase deficiency. One unaffected pregnancy at risk for an unclassified form of MMA and another unaffected pregnancy at risk for cblC, had higher than control MMA amniotic fluid levels. Our experience suggests that prenatal diagnosis for these disorders should be done by application of two independent methods, and that CA studies appear more reliable than CCVC studies.
Chantal F Morel; David Watkins; Patrick Scott; Piero Rinaldo; David S Rosenblatt
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  86     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:    2005 Sep-Oct
Date Detail:
Created Date:  2005-10-05     Completed Date:  2006-01-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  160-71     Citation Subset:  IM    
Department of Human Genetics, McGill University, Montreal, Que., Canada.
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MeSH Terms
Biological Transport
DNA Mutational Analysis
Genetic Complementation Test
Metabolism, Inborn Errors / diagnosis*,  genetics
Methylmalonic Acid / blood*
Prenatal Diagnosis*
Vitamin B 12 / metabolism*
Reg. No./Substance:
516-05-2/Methylmalonic Acid; 68-19-9/Vitamin B 12

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

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