Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening
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Yun Sun
Abstract
Background:
The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS).
Methods:
Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The SLC22A5 gene was detected by using diagnosis panel of genetic and metabolic diseases based on Ion Torrent Semiconductor Sequencing Technology.
Results:
The initial free carnitine (C0) concentrations of the patients were 6.43±1.36 μmol/L, and the recall screening concentrations were 5.59±0.89 μmol/L. The patients were treated with oral carnitine, so the levels after treatment were 20.24±3.88 μmol/L. All patients had two pathogenic mutation alleles.
Conclusions:
The combined application of MS/MS and a next generation sequencing panel could be used for the accurate diagnosis of PCD. The results of genetic diagnosis can guide the assisted reproductive treatment. The prognosis of PCD patients is good after early treatment.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: The study was supported by the Medical Research Project of Jiangsu Provincial Commission of Health and Family Planning (Grant H201343), Nanjing Medical Science and Technology Development Key Project (Grant ZKX14041).
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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Articles in the same Issue
- Frontmatter
- Editorial
- Endocrine aspects in cystic fibrosis
- Original Articles
- A retrospective analysis of longitudinal changes in bone mineral content in cystic fibrosis
- Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function
- Partial clinical remission in type 1 diabetes: a comparison of the accuracy of total daily dose of insulin of <0.3 units/kg/day to the gold standard insulin-dose adjusted hemoglobin A1c of ≤9 for the detection of partial clinical remission
- Concentrations of leptin, adiponectin and other metabolic parameters in non-obese children with Down syndrome
- Parent reported nutritional risk and laboratory indices of cardiometabolic risk and in preschool-aged children
- Multinodular goiter in children: treatment controversies
- Atopy as a risk factor for subclinical hypothyroidism development in children
- Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism
- Health-related quality of life among children with Turner syndrome: controlled cross-sectional study
- Growth and pubertal patterns in young survivors of childhood acute lymphoblastic leukemia
- Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening
- Letter to the Editor
- Sensitivity and specificity of cystic fibrosis-related diabetes screening methods: which test should be the reference method?
- Case Reports
- Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
- Severe hypertriglyceridemia at new onset type 1 diabetes mellitus
- 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
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