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.
Highlights
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) belong to the most common fatty acid β-oxidation disorders (FAOD)
Relationship between Acute Events and Chronic Complications In LCHADD/MTPD, we explored the influence of rhabdomyolysis and acute heart failure on the development of cardiomyopathy, and we found no significant relationship, with p = 1 and p = 0.077, respectively
Considering genotype–phenotype correlations, we demonstrated that LCHADD/MTPD
Summary
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) belong to the most common fatty acid β-oxidation disorders (FAOD). The derangement of β-oxidation leads to an inadequate energy supply with a decreased production of ketone bodies and hypoglycaemia, as well as to an accumulation of toxic long-chain hydroxylated and medium-chain fatty acid derivatives, which induce oxidative stress and hamper multiple mitochondrial functions that contribute to tissue damage [2,3]. Both LCHADD and MCADD typically manifest with life-threatening episodes of altered consciousness, hypoketotic hypoglycaemia, liver dysfunction, and hyperammonaemia during periods of prolonged fasting or increased energy demands. Tightness in muscles and the Achilles tendon appears to decrease the range of ankle movement
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