Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
-
Mujgan Ercan
,
Emiş Deniz Akbulut
Abstract
Objectives
Biotinidase Deficiency (BD) is an autosomal recessive metabolic disorder. However, the relationship between genotype and biochemical phenotype has not been completely elucidated yet. But still, some mutations are accepted to be associated with profound or partial deficiency. We aimed to evaluate the results of biochemical enzyme activity in accordance with the presence of genetic mutations and investigate the correlation between genotype and biochemical phenotype together in the study.
Methods
This retrospective study was carried out using data from medical records of 133 infants detected by the newborn screening followed by serum biotinidase activity (BA) detection with semi-quantitative colorimetric method. Mutation analysis was performed to confirm the diagnosis. In addition, the expected biochemical phenotype based on the known mutant alleles were compared with the observed biochemical phenotype.
Results
When confirmed with mutation analysis results, the diagnostic sensitivity and specificity of serum BA with spectrophotometric method was 93.1% and 95.1%, respectively. In 93.98% of the cases conformity was observed between the biochemical phenotype and the genotype. The c.1330 G>C(p.D444H) and c.470 G>A (p.Arg157His) were the most common allelic variants with frequencies of 63.69% and 33.75%, respectively.
Conclusions
The diagnostic test is supposed to have a high sensitivity to identify asymptomatic BD patients. Apparently healthy cases with almost normal enzyme activity and a variant allele in the genetic analysis were reported to present symptoms under stress conditions, which should be kept in mind. This study can be accepted as an informative report as it may contribute to the literature in terms of the allelic frequency and determination of the relation between genotype and biochemical phenotype. Also, method verification including the assessment of possible effects of non-genetic factors on BA according to the certain mutation types is warranted.
Research funding: None declared.
Author contributions: Author Ercan M, Akbulut ED, Oz O, Ataş N and Karaca M have given substantial contributions to the conception or the design of the manuscript. Ercan M and Karaca M were responsible for enzyme activity testing and for interpretation of the DBS screening testing. Oz O was responsible for the molecular analysis and for interpretation of the genetic variants. All authors have participated to drafting the manuscript, author Yılmaz FM revised it critically. All authors read and approved the final version of the manuscript.
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.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Articles in the same Issue
- Frontmatter
- Review Articles
- Association between muscle strength and risk factors for metabolic syndrome in children and adolescents: a systematic review
- Adverse effects of metabolic disorders in childhood on adult reproductive function and fertility in the male
- Original Articles
- Female adolescents and young women previously treated for pediatric malignancies: assessment of ovarian reserve and gonadotoxicity risk stratification for early identification of patients at increased infertility risk
- Anthropometric indices and cardiometabolic risk factors in a Ghanaian adolescent population
- Effectiveness of basal LH in monitoring central precocious puberty treatment in girls
- Combination of sleep duration, TV time and body mass index is associated with cardiometabolic risk moderated by age in youth
- Serum level of NPTX1 is independent of serum MKRN3 in central precocious puberty
- Training using a simulation-based workshop reduces inaccuracies in estimations of testicular volume
- Longitudinal 15-year follow-up of women with former early puberty: abnormal metabolic profiles not associated with earlier age at onset of puberty, but associated with obesity
- Prenatal smoke exposure is associated with increased anogenital distance in female infants: a prospective case–control study
- Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
- Characterization and outcome of 11 children with non-diabetic ketoacidosis
- Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study
- The utility of 68Ga-DOTATATE PET/CT in localizing primary/metastatic pheochromocytoma and paraganglioma in children and adolescents – a single-center experience
- Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: a single-center experience
- Case Reports
- Delayed phenylketonuria diagnosis: a challenging case in child psychiatry
- Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene
- Differentiating syndrome of inappropriate ADH, reset osmostat, cerebral/renal salt wasting using fractional urate excretion
- Ectopic ACTH production by thymic and appendiceal neuroendocrine tumors – two case reports
- New onset diabetes with diabetic ketoacidosis in a child with multisystem inflammatory syndrome due to COVID-19
