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Prenatal Diagnosis of Carnitine Palmitoyltransferase 2 Deficiency in Chorionic Villi: a Novel Approach by Bernadette Chadefaux Vekemans; Jean-Paul Bonnefont; Joëlle Aupetit; Ghislaine Royer; Véronique Droin; Tania Attié-Bitach; Jean-Marie Saudubray; Laure Thuillier is a Medicine article available to read on EtoBox.
What is Prenatal Diagnosis of Carnitine Palmitoyltransferase 2 Deficiency in Chorionic Villi: a Novel Approach about?
Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) beta-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life-threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one-fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16-17 weeks' gestation).We devised a CPT2 activity assay from 10 mg of chorionic villi sampling (CVS). Combining this enzymatic assay to haplotype study using polymorphic markers linked to the CPT2 gene, we were able to carry out within 2 days, CPT2 deficiency PND, in two unrelated families, using a CVS performed at the 11th week of gestation.
Who reads Prenatal Diagnosis of Carnitine Palmitoyltransferase 2 Deficiency in Chorionic Villi: a Novel Approach?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Bernadette Chadefaux Vekemans; Jean-Paul Bonnefont; Joëlle Aupetit; Ghislaine Royer; Véronique Droin; Tania Attié-Bitach; Jean-Marie Saudubray; Laure Thuillier
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)
- Published
- 2003
- Language
- EN
- Field
- Medicine (Health Sciences)