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Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
Mol Genet Metab. 2005 Sep-Oct; 86(1-2):160-71.MG

Abstract

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+Show Affiliations

Department of Human Genetics, McGill University, Montreal, Que., Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16150626

Citation

Morel, Chantal F., et al. "Prenatal Diagnosis for Methylmalonic Acidemia and Inborn Errors of Vitamin B12 Metabolism and Transport." Molecular Genetics and Metabolism, vol. 86, no. 1-2, 2005, pp. 160-71.
Morel CF, Watkins D, Scott P, et al. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Genet Metab. 2005;86(1-2):160-71.
Morel, C. F., Watkins, D., Scott, P., Rinaldo, P., & Rosenblatt, D. S. (2005). Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Molecular Genetics and Metabolism, 86(1-2), 160-71.
Morel CF, et al. Prenatal Diagnosis for Methylmalonic Acidemia and Inborn Errors of Vitamin B12 Metabolism and Transport. Mol Genet Metab. 2005 Sep-Oct;86(1-2):160-71. PubMed PMID: 16150626.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. AU - Morel,Chantal F, AU - Watkins,David, AU - Scott,Patrick, AU - Rinaldo,Piero, AU - Rosenblatt,David S, PY - 2005/07/05/received PY - 2005/07/25/revised PY - 2005/07/26/accepted PY - 2005/9/10/pubmed PY - 2006/1/24/medline PY - 2005/9/10/entrez SP - 160 EP - 71 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 86 IS - 1-2 N2 - 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. SN - 1096-7192 UR - https://www.unboundmedicine.com/medline/citation/16150626/Prenatal_diagnosis_for_methylmalonic_acidemia_and_inborn_errors_of_vitamin_B12_metabolism_and_transport_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(05)00232-5 DB - PRIME DP - Unbound Medicine ER -