PMID- 29519241 OWN - NLM STAT- MEDLINE DCOM- 20180822 LR - 20181114 IS - 1471-2431 (Electronic) IS - 1471-2431 (Linking) VI - 18 IP - 1 DP - 2018 Mar 8 TI - Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. PG - 103 LID - 10.1186/s12887-018-1069-z [doi] LID - 103 AB - BACKGROUND: Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible. This study describes the clinical, biochemical and molecular characteristics of FAODs patients detected by newborn screening (NBS) compared with those of 9 patients with symptomatic presentations. METHODS: Clinical and genetic features of FAODs patients diagnosed by NBS and by symptomatic presentations were reviewed. RESULTS: Fourteen patients were diagnosed with FAODs by NBS at the age of 54.8 +/- 4.8 days: 5 with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, 5 with medium chain acyl-CoA dehydrogenase (MCAD) deficiency, 1 with primary carnitine deficiency, 1 with carnitine palmitoyltransferase 1A (CPT1A) deficiency, 1 with long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein (LCAHD/MTP) deficiency, and 1 with short chain acyl-CoA dehydrogenase (SCAD) deficiency. Three patients with VLCAD or LCHAD/MTP deficiency developed recurrent rhabdomyolysis or cardiomyopathy, and one patient died of cardiomyopathy. The other 10 patients remained neurodevelopmentally normal and asymptomatic during the follow-up. In 8 patients with symptomatic presentation, FAODs manifested as LCHAD/MTP deficiencies by recurrent rhabdomyolysis or cadiomyopathy (6 patients), and VLCAD deficiency by cardiomyopathy (1 patient), and CPT1A deficiency by hepatic failure (1 patient). Two patients with LCHAD/MTP deficiencies died due to severe cardiomyopathy in the neonatal period, and developmental disability was noted in CPT1A deficiency (1 patient). CONCLUSIONS: NBS helped to identify the broad spectrum of FAODs and introduce early intervention to improve the clinical outcome of each patient. However, severe clinical manifestations developed in some patients, indicating that careful, life-long observation is warranted in all FAODs patients. FAU - Kang, Eungu AU - Kang E AD - Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea. FAU - Kim, Yoon-Myung AU - Kim YM AD - Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Kang, Minji AU - Kang M AD - Asan Insitute for Life Sciences, Asan Medical Center Children's Hospital, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Heo, Sun-Hee AU - Heo SH AD - Asan Insitute for Life Sciences, Asan Medical Center Children's Hospital, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Kim, Gu-Hwan AU - Kim GH AD - Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Choi, In-Hee AU - Choi IH AD - Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Choi, Jin-Ho AU - Choi JH AD - Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Yoo, Han-Wook AU - Yoo HW AD - Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. AD - Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. FAU - Lee, Beom Hee AU - Lee BH AD - Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. bhlee@amc.seoul.kr. AD - Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea. bhlee@amc.seoul.kr. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20180308 PL - England TA - BMC Pediatr JT - BMC pediatrics JID - 100967804 RN - 0 (Biomarkers) SB - IM MH - Biomarkers/metabolism MH - Early Diagnosis MH - Female MH - Follow-Up Studies MH - Humans MH - Infant MH - Infant, Newborn MH - Lipid Metabolism, Inborn Errors/*diagnosis/metabolism/therapy MH - Male MH - *Neonatal Screening MH - Retrospective Studies MH - Tandem Mass Spectrometry MH - Treatment Outcome PMC - PMC5842515 OTO - NOTNLM OT - Fatty acid oxidation disorders OT - Genotype-phenotype correlation OT - Newborn screening OT - Treatment outcome COIS- ETHICS APPROVAL AND CONSENT TO PARTICIPATE: This study was conducted after obtaining appropriate written informed consent from the parents of all participants, and the Institutional Review Board (IRB) at Asan Medical Center approved this study (IRB number: 2016-1098). CONSENT FOR PUBLICATION: A written informed consent for publication was obtained from each patient or responsible family member. COMPETING INTERESTS: No potential conflict of interest relevant to this article was reported. PUBLISHER'S NOTE: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. EDAT- 2018/03/10 06:00 MHDA- 2018/08/23 06:00 PMCR- 2018/03/08 CRDT- 2018/03/10 06:00 PHST- 2016/11/28 00:00 [received] PHST- 2018/02/19 00:00 [accepted] PHST- 2018/03/10 06:00 [entrez] PHST- 2018/03/10 06:00 [pubmed] PHST- 2018/08/23 06:00 [medline] PHST- 2018/03/08 00:00 [pmc-release] AID - 10.1186/s12887-018-1069-z [pii] AID - 1069 [pii] AID - 10.1186/s12887-018-1069-z [doi] PST - epublish SO - BMC Pediatr. 2018 Mar 8;18(1):103. doi: 10.1186/s12887-018-1069-z.