Document Detail


Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
MedLine Citation:
PMID:  16150626     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Chantal F Morel; David Watkins; Patrick Scott; Piero Rinaldo; David S Rosenblatt
Related Documents :
9822486 - Extracoelomic fluid osmometry and electrolyte composition during early gestation in the...
7471456 - Amniotic fluid reverse triiodothyronine in normal and high risk pregnancies.
3980926 - Oxytocin and vasopressin in the rat do not readily pass from the mother to the amniotic...
7494656 - Soluble l-selectin (scd62l) umbilical cord plasma levels increase with gestational age.
6477846 - Changes in serum albumin and alpha 1-acid glycoprotein concentrations during pregnancy:...
1168996 - Placental transfer of glutamate and its metabolites in the primate.
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    
Affiliation:
Department of Human Genetics, McGill University, Montreal, Que., Canada.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Biological Transport
DNA Mutational Analysis
Female
Genetic Complementation Test
Humans
Metabolism, Inborn Errors / diagnosis*,  genetics
Methylmalonic Acid / blood*
Pregnancy
Prenatal Diagnosis*
Vitamin B 12 / metabolism*
Chemical
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


Previous Document:  Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular lo...
Next Document:  Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus ...