1. Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
- Author
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Rücklová K, Hrubá E, Pavlíková M, Hanák P, Farolfi M, Chrastina P, Vlášková H, Kousal B, Smolka V, Foltenová H, Adam T, Friedecký D, Ješina P, Zeman J, Kožich V, and Honzík T
- Subjects
- 3-Hydroxyacyl CoA Dehydrogenases deficiency, Cardiomyopathies epidemiology, Carnitine analogs & derivatives, Carnitine blood, Child, Child, Preschool, Czech Republic epidemiology, Female, Humans, Incidence, Infant, Infant, Newborn, Lipid Metabolism, Inborn Errors epidemiology, Male, Metabolism, Inborn Errors diagnosis, Mitochondrial Myopathies epidemiology, Nervous System Diseases epidemiology, Outcome Assessment, Health Care, Retrospective Studies, Rhabdomyolysis epidemiology, Severity of Illness Index, Acyl-CoA Dehydrogenase deficiency, Cardiomyopathies diagnosis, Cardiomyopathies diet therapy, Lipid Metabolism, Inborn Errors diagnosis, Lipid Metabolism, Inborn Errors diet therapy, Mitochondrial Myopathies diagnosis, Mitochondrial Myopathies diet therapy, Mitochondrial Trifunctional Protein deficiency, Neonatal Screening methods, Nervous System Diseases diagnosis, Nervous System Diseases diet therapy, Rhabdomyolysis diagnosis, Rhabdomyolysis diet therapy
- Abstract
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. The aim of our study was to assess the nationwide impact of ENBS on clinical outcome. This retrospective study analysed acute events and chronic complications and their severity in pre-ENBS and post-ENBS cohorts. In total, 28 children (12 before, 16 after ENBS) were diagnosed with LCHADD/MTPD (incidence 0.8/100,000 before and 1.2/100,000 after ENBS). In the subgroup detected by ENBS, a significantly longer interval from birth to first acute encephalopathy was observed. In addition, improvement in neuropathy and cardiomyopathy (although statistically non-significant) was demonstrated in the post-ENBS subgroup. In the MCADD cohort, we included 69 patients (15 before, 54 after ENBS). The estimated incidence rose from 0.7/100,000 before to 4.3/100,000 after ENBS. We confirmed a significant decrease in the number of episodes of acute encephalopathy and lower proportion of intellectual disability after ENBS ( p < 0.0001). The genotype-phenotype correlations suggest a new association between homozygosity for the c.1528C > G variant and more severe heart involvement in LCHADD patients.
- Published
- 2021
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