Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
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Yu-yu Li
Abstract
Objectives
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of the fatty acid oxidative metabolism. This study aimed to investigate the epidemiological characteristics, the spectrum of variation, clinical phenotype, and prognosis of MCADD in Chinese newborns.
Methods
We retrospectively analysed newborn screening (NBS) data in the Zibo area from January 2016 to March 2022 and summarized 42 cases recently reported in Chinese neonates. High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) and next-generation sequencing (NGS) were used to detect the concentrations of carnitine in the blood spots and for diagnosis.
Results
A total of 183,082 newborns were detected, and six patients were diagnosed with MCADD (1/3,0514). The primary octanoylcarnitine (C8) and the octanoylcarnitine/decanoylcarnitine ratio (C8/C10) were elevated in all patients. Gene analysis revealed four known and four novel variants of the ACADM gene. Five patients were asymptomatic and developed normally under dietary guidance. One child died of vaccination-induced MCADD, presenting with hypoglycemia and elevated acylcarnitines.
Conclusions
The incidence of MCADD in Chinese newborns varies geographically from 1/222,903 to 1/30,514, and the most common pathogenic variant is c.449_452 del CTGA (p. T150Rfs∗4) in ACADM gene with a frequency of 27.7%. HPLC-MS/MS and genetic analysis are beneficial for early prevention and good prognosis of MCADD.
Funding source: Youth Fund in Zibo Maternal and Child Health Hospital
Funding source: Shandong Pharmaceutical Health Science and Technology Development Plan
Award Identifier / Grant number: (202111000225)
Acknowledgments
We thank the colleagues for their contributions and all the project participants for their contributions.
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Research funding: This work was supported by the Shandong Pharmaceutical Health Science and Technology Development Plan (202111000225) and Youth Fund in Zibo Maternal and Child Health Hospital.
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Author contributions: Yu-yu Li, Xue-cheng Sun and Kai Mu prepared the data and the manuscript. Yu-yu Li, Jia Xu and Hong-yu Li were responsible for detecting the samples. Yu-yu Li, Xue-cheng Sun and Kai Mu were responsible for revising the manuscript critically for important intellectual content and project administration. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The study was reviewed and approved by the ethic committee of the Zibo Maternal and Child Health Hospital.
References
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Articles in the same Issue
- Frontmatter
- Original Articles
- Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
- Use of letrozole to augment height outcome in pubertal boys: a retrospective chart review
- Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran
- Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors
- Utility of head CT scan in treatment decisions for suspected cerebral edema in children with DKA
- Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
- Performance of glucagon stimulation test in diagnosing central adrenal insufficiency in children when utilising the Roche Elecsys® cortisol II assay: a pilot study
- Effects and dose-response relationship of exercise training on cardiometabolic risk factors in children with obesity
- Biochemical indicators of euthyroid sick syndrome in critically ill children
- Short Communication
- Parental marital relationship satisfaction predicts glycemic outcomes in children with type 1 diabetes
- Case Reports
- Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism
- Three pediatric cases of symptomatic hyponatremia in Prader–Willi syndrome
- Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome
- Exaggerated mini-puberty in a preterm girl: a case report and review of literature
- Diabetic ketoacidosis masquerading behind alkalemia an undiagnosed or missed variant of diabetic ketoacidosis
