3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
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Huaiyan Wang
,
Leilei Wang
Abstract
Objective
To evaluate whether 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) should be routinely screened in newborns.
Methods
Dried blood spots (DBS) were collected and analyzed by tandem mass spectrometry (TMS). Blood samples were collected from infants with positive 3-MCCD results. Targeted sequencing was performed using the extended panel for inherited metabolic diseases to detect 306 genes. The sequencing libraries were quantified and used for massively parallel sequencing on the Illumina HiSeq 2500 platform.
Results
A total of 536,008 infants underwent newborn screening (NBS) and 14 cases of 3-MCCD were diagnosed. The incidence of 3-MCCD in Jiangsu province was 1:38,286. During the last 3 years of follow-up, none of the subjects with 3-MCCD exhibited obvious clinical symptoms. Only two children had mild feeding difficulties and vomiting. Eleven patients had complex variants of the MCCC1 gene, and three patients had mutations in MCCC2. In total, 17 types of MCCC1 or MCCC2 variants were found, and c.639 + 2t > a was the most common mutation.
Conclusions
As far as the current results are concerned, 3-MCCD may be benign in Jiangsu province. However, additional investigations and a longer follow-up period are necessary to decide whether NBS of 3-MCCD is necessary or not.
Acknowledgments
We thank all of the project participants for their contributions. We thank Editage (https://www.editage.com/frontiers/) for the language editing.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This study was supported by grants from Key Research and Development Plan Project of Jiangsu province (BE2017650 and BE2018677), Changzhou Science and Technology Support Project (Social Development CE20175021 and LC2017001), Jiangsu Maternal and Child Health Research Project (F201671 and F201603) and Jiangsu Maternal and Children Health Care Key Discipline (FXK201748).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
- Original Articles
- The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- Long non-coding RNA HCP5 serves as a ceRNA sponging miR-17-5p and miR-27a/b to regulate the pathogenesis of childhood obesity via the MAPK signaling pathway
- Once-weekly supervised combined training improves neurocognitive and psychobehavioral outcomes in young patients with type 1 diabetes mellitus
- Associations between thyroid-stimulating hormone, blood pressure and adiponectin are attenuated in children and adolescents with overweight or obesity
- Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children
- Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs
- Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa
- Case Reports
- Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
- Infantile cerebral infarction caused by severe diabetic ketoacidosis in new-onset type 1 diabetes mellitus
- Gallstone formation due to rapid weight loss through hyperthyroidism
- A neonate with mucolipidosis II and transient secondary hyperparathyroidism
- Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
Artikel in diesem Heft
- Frontmatter
- Mini Review
- Can preimplantation genetic diagnosis be used for monogenic endocrine diseases?
- Original Articles
- The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia
- 3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
- Long non-coding RNA HCP5 serves as a ceRNA sponging miR-17-5p and miR-27a/b to regulate the pathogenesis of childhood obesity via the MAPK signaling pathway
- Once-weekly supervised combined training improves neurocognitive and psychobehavioral outcomes in young patients with type 1 diabetes mellitus
- Associations between thyroid-stimulating hormone, blood pressure and adiponectin are attenuated in children and adolescents with overweight or obesity
- Mental health of both child and parents plays a larger role in the health-related quality of life of obese and overweight children
- Near final adult height, and body mass index in overweight/obese and normal-weight children with idiopathic central precocious puberty and treated with gonadotropin-releasing hormone analogs
- Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa
- Case Reports
- Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family
- Infantile cerebral infarction caused by severe diabetic ketoacidosis in new-onset type 1 diabetes mellitus
- Gallstone formation due to rapid weight loss through hyperthyroidism
- A neonate with mucolipidosis II and transient secondary hyperparathyroidism
- Zoledronate-responsive calcitriol-mediated hypercalcemia in a 5-year-old case with squamous cell carcinoma on the background of xeroderma pigmentosum
