Journal of Clinical Pediatrics >
Clinical and genetic analysis of early onset very long chain acyl-CoA dehydrogenase deficiency: a report of three cases
Received date: 2022-04-18
Online published: 2023-05-10
Objective To explore the clinical features and genetic characteristics for early onset very long chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) and to improve the understanding of this disease. Methods The genotypes, clinical phenotypes and prognosis of 3 neonates with early-onset VLCADD diagnosed and treated in the neonatal intensive care unit of Xinhua Hospital, Shanghai Jiao Tong University School of Medicine from September 2017 to April 2020 were retrospectively analyzed. Results Three children (2 boys and 1 girl) with early onset VLCADD were diagnosed by molecular method, and none of them had a positive family history. All three patients presented with metabolic crisis or digestive tract symptoms during the neonatal period. Two children were found to have increased C14:1 during the neonatal screening, and 1 case was not screened. All three children had ACADVL gene variations, which were complex heterozygotes, and the variations were from parents, among which c.1615C > T and c.231-232insAATG were not reported. One patient was breastfed after birth and had respiratory and cardiac arrest at 2 days of age. The other two children were fed special milk powder rich in medium-chain triacylglycerol immediately after the diagnosis due to abnormalities found in the neonatal screening, and sudden death occurred at 3 and 4 months of age, respectively. Conclusions Early onset VLCADD is one of the potential sudden death diseases in neonatal period and infancy. The prognosis is still poor despite early diagnosis and treatment. Therefore, prenatal diagnosis of fetuses from families with previous birth of VLCADD is an effective way to avoid the birth of early onset VLCADD children.
Yanjun LI , Yonghong ZHANG , Yan CHEN , Wenjun QIU , Lianshu HAN , Tianwen ZHU . Clinical and genetic analysis of early onset very long chain acyl-CoA dehydrogenase deficiency: a report of three cases[J]. Journal of Clinical Pediatrics, 2023 , 41(5) : 381 -386 . DOI: 10.12372/jcp.2023.22e0453
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