Five years experience of newborn screening for médium chain acyl coa dehydrogenase deficiency

CASTILLO C; CRESPO C; ARANDA C ; TORRES F; EIROA H; MACCALLINI CG; RODRIGUEZ R; CHIESA A

CABA

Congreso; XI Congreso Latinoamericano de errores congénitos del metabolismo y pesquisa neonatal; 2019

INTRODUCTION: The newborn screening for MCADD wasadded to our program after the set-up of the mass spectrometry(LC-MS/MS) technology in 2014. It is the seventh disease thatis screened in our program.OBJECTIVE: to describe the results of the MCADD newbornscreening at 5 years of its implementation.MATERIALS AND METHODS: Beginning in January 2014MCADD screening was conducted in every newborn of ourprogram. Blood samples were collected on filter paperWhatman 903 within 2-5 days of life. Non derivatized reagentfrom PerkinElmer and Chromsystems were used over the fiveyerars on API 3200 LC-MS/MS instrument from ABSciex.Primary marker used was Octanoylcarnitine (C8), cut off valueof 0.28 uM (99.9 th percentile) Since July 2014 it was addedthe informative ratio C8/C10 with a cut off value of 1.0. Sincethat moment, babies with C8 and C8/C10 ratio above cut offvalues were recalled. Since January 2016, C8 cut off value of0.21 uM and C8/C10 ratio of 1.0 using Chromsystems reagentswere implemented. Confirmatory studies includeacylcarnitines profile, Urine organic acids and molecularstudies.RESULTS: The total number of newborns tested untilDecember 2018 was 119,353, the total number of recalledbabies was 31, Recall rate 0.026%. Five babies wereconfirmed with MCADD, positive predictive value atscreening was 16.1 %. Mean days of life at newborn samplingwas 2.8 days and mean days of life at physician visit forconfirmatory testing was 9.2 days. All the patients wereasymptomatic at their first physician visit and had goodevolution.CONCLUSION: The introduction of this new disease at ourprogram, allow the detection of patients with medium chainacyl coA dehydrogenase deficiency on a timely manner withacceptable recall rate and good evolution.