OBJECTIVES: The purpose of the current study was to screen newborns in Greece and to identify the responsible mutations for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). DESIGN AND METHODS: 47.812 neonates were screened for the potential presence of MCADD in Greece, via a LC-MS/MS protocol. The "suspected" samples were subjected to genetic testing via PCR-RFLP and sequencing of the coding region of the ACADM gene. Urine samples were collected and then analyzed with a GC/MS method. RESULTS: The MCADD prevalence is 1 in 15,937 births. The alleles c.985A>G and c.245insT were detected in the 29.2% and 20.8% of the "suspected" cohort, respectively. A novel variant with potential pathogenicity was identified. CONCLUSIONS: The c.245insT allele seems to prevail in the Greek cohort of "suspected" specimens. Therefore, this variant along with the c.985A>G allele could constitute a panel for both prenatal and neonatal MCADD screening in the Greek population.
OBJECTIVES: The purpose of the current study was to screen newborns in Greece and to identify the responsible mutations for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). DESIGN AND METHODS: 47.812 neonates were screened for the potential presence of MCADD in Greece, via a LC-MS/MS protocol. The "suspected" samples were subjected to genetic testing via PCR-RFLP and sequencing of the coding region of the ACADM gene. Urine samples were collected and then analyzed with a GC/MS method. RESULTS: The MCADD prevalence is 1 in 15,937 births. The alleles c.985A>G and c.245insT were detected in the 29.2% and 20.8% of the "suspected" cohort, respectively. A novel variant with potential pathogenicity was identified. CONCLUSIONS: The c.245insT allele seems to prevail in the Greek cohort of "suspected" specimens. Therefore, this variant along with the c.985A>G allele could constitute a panel for both prenatal and neonatal MCADD screening in the Greek population.
Authors: Maria Luz Couce; Paula Sánchez-Pintos; Luisa Diogo; Elisa Leão-Teles; Esmeralda Martins; Helena Santos; Maria Amor Bueno; Carmen Delgado-Pecellín; Daisy E Castiñeiras; José A Cocho; Judit García-Villoria; Antonia Ribes; José M Fraga; Hugo Rocha Journal: Orphanet J Rare Dis Date: 2013-07-10 Impact factor: 4.123