Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
-
Özlem Demirelce
,
Fehime Benli Aksungar
Abstract
Background
The tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cut-off levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population.
Methods
Newborn screening tests performed by tandem MS from 2016 to 2018 were retrospectively reviewed. The study group included 17,066 newborns born in our hospitals located in various regions of Turkey. Blood samples were obtained from infants older than 24 h of age. Among the 17,066 newborns, the metabolic screening data of 9,994 full-term newborns (>37 weeks) were employed to obtain the percentile distribution of the normal population. The study group (17,066) was screened for 26 types of inborn error of metabolism.
Results
Our established cut-offs, were compared with the cut-offs determined by Region for Stork Study and Centers for Disease Control. Among the 26 screened disorders, a total of 12 cases (8 amino acid metabolism disorders, 1 urea cycle defect, 2 organic acidaemias and 1 fatty acid oxidation disorder) were identified.
Conclusions
Because of the high rate of consanguineous marriages in Turkey, the development of a nationwide screening panel is necessary for early detection and management of potentially treatable inherited metabolic disorders.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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.
Contributorship: OD and FBA researched literature and conceived the study. NYS and MK were involved in protocol development, MS, and IU were involved in patient recruitment and data analysis. OD wrote the first draft of the manuscript. All authors reviewed and edited the manuscript and approved the final version of the manuscript.
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Original Articles
- Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
- Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
- Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
- Investigation of the effect of epicardial adipose tissue thickness on cardiac conduction system in children with type 1 diabetes mellitus
- Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
- Circulating chemerin level may be associated with early vascular pathology in obese children without overt arterial hypertension – preliminary results
- A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
- Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V
- Children with onset-ketoacidosis are admitted to the nearest hospital available, regardless of center size
- Evaluation of α-klotho level in insulin dependent diabetes mellitus (IDDM) children
- Evaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents
- Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride–glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study
- Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound
- Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients
- Case Reports
- An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia
- A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome
- Isolated premature menarche in two siblings with Neurofibromatosis type 1
- GAD-65 autoantibody associated epilepsy
Articles in the same Issue
- Frontmatter
- Original Articles
- Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population
- Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
- Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population
- Investigation of the effect of epicardial adipose tissue thickness on cardiac conduction system in children with type 1 diabetes mellitus
- Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
- Circulating chemerin level may be associated with early vascular pathology in obese children without overt arterial hypertension – preliminary results
- A novel diagnostic tool for the evaluation of hypothalamic-pituitary region and diagnosis of growth hormone deficiency: pons ratio
- Growth status of children and adolescents born small for gestational age at full term in Korea: data from the KNHANES-V
- Children with onset-ketoacidosis are admitted to the nearest hospital available, regardless of center size
- Evaluation of α-klotho level in insulin dependent diabetes mellitus (IDDM) children
- Evaluation of the relationship between the one-hour plasma glucose concentration and beta-cell functions and cardiometabolic parameters during oral glucose tolerance test in obese children and adolescents
- Triglycerides/high-density lipoprotein cholesterol is a predictor similar to the triglyceride–glucose index for the diagnosis of metabolic syndrome using International Diabetes Federation criteria of insulin resistance in obese adolescents: a cross-sectional study
- Rapid progressive central precocious puberty: diagnostic and predictive value of basal sex hormone levels and pelvic ultrasound
- Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients
- Case Reports
- An infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia
- A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome
- Isolated premature menarche in two siblings with Neurofibromatosis type 1
- GAD-65 autoantibody associated epilepsy
