ArticleJournal of medical biochemistry2016
Comparison of Spectrophotometric and Fluorimetric Methods in Evaluation of Biotinidase Deficiency.
Article in Journal of medical biochemistry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Guideline
- High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.International journal of environmental research and public health · 2022Article
- Recovery of enzyme activity in biotinidase deficient individuals during early childhood.Journal of inherited metabolic disease · 2022Article
- Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.Molecular genetics & genomic medicine · 2021Article
- Evaluation of Renal Function in Alzheimer's Disease and Geriatric Patients: Results from a Turkish Two-center Study.Journal of medical biochemistry · 2017Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBiotin, a water-soluble vitamin, is used as a co-factor by enzymes involved in carboxylation reactions. Biotinidase (BTD) catalyzes the recycling of biotin from endogenous and dietary sources. Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences when untreated. The aim of the study was to compare the results of spectrophotometric and fluorimetric methods, as well as to evaluate the advantages and disadvantages of both methods in current research practices.
methodsStudy group was chosen among the BD suspected newborn, children and parents (n = 52) who applied to Hacettepe University Pediatric Metabolism Unit.
resultsBTD activity is stable for 2 hours at room temperature and at 4 °C, and for 4 months at -20 °C and -80 °C. Genetic and clinical results showed that 25% of the total number of patients had complete BD which was treated with 10 mg/day biotin, while 15.38% of the patients had partial BD, and they were prescribed biotin 5 mg/day. The area under the ROC curve was 0.960±0.25 and 0.927± 0.41 for the fluorimetric and spectrophotometric method, respectively. Fluorimetric method showed 100% sensitivity and 97% specificity, whereas spectrophotometric method showed 90.5% sensitivity and 93.7% specificity.
conclusionsFluorimetric method is superior to the spectrophotometric method due to higher sensitivity and specificity.
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