Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns

González, Ernesto Carlos; Marrero, Neivis; Frómeta, Amarilys; Herrera, Darlenis; Castells, Elisa; Pérez, Pedro L.

doi:10.1016/j.cca.2006.01.009

Cited by 7 publications

(7 citation statements)

References 13 publications

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“…Umtest Biotinidasa Test ® (Tecnosuma) was used as the primary qualitative screening test (González et al 2006). It was repeated on another DBS sample if positive.…”

Section: Methodsmentioning

confidence: 99%

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

et al. 2015

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Objective: To assess the incidence of biotinidase deficiency among newborns and their clinical outcome up to one year of age in a large pilot screening study in Minas Gerais, Brazil.Methods: A prospective cohort study was conducted from September 2007 to June 2008 with heel-prick blood samples collected on filter paper for the purpose of newborn screening. A qualitative colorimetric test was used as the primary screening method. Colorimetricpositive cases were further tested with a serum confirmatory assay. Gene sequencing was performed for eight children suspected with biotinidase deficiency and for some of their parents. Positive cases were daily supplemented with oral biotin and were followed up for approximately six years.

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“…Umtest Biotinidasa Test ® (Tecnosuma) was used as the primary qualitative screening test (González et al 2006). It was repeated on another DBS sample if positive.…”

Section: Methodsmentioning

confidence: 99%

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

et al. 2015

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“…Those that present light yellow color are considered to have little or none activity, and they are classified as profound deficient. The ultramicroassay described initially used 40 µL of B-PAB, 15 which was subsequently modified to 70 µL in the year 2007. Table 1 shows the SUMA assays and the cutoff values used for the newborn screening of the 5 disorders included in the Cuban NSP.…”

Section: Methodsmentioning

confidence: 99%

SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

Reyes

Castells

Frómeta

et al. 2016

Journal of Inborn Errors of Metabolism and Screening

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The ultramicroanalytic system (SUMA), created in the 1980s, is a complete system of reagents and instrumentation to perform ultramicroassays combining the sensitivity of the micro-enzyme-linked immunosorbent assay (ELISA) tests with the use of ultramicrovolumes. This technology permitted establishing large-scale newborn screening programs (NSPs) for metabolic and endocrine disorders in Cuba. This article summarizes the main results of the implementation during the 30 years of SUMA technology in NSP for 5 inherited metabolic diseases, using ultramicroassays developed at the Department of Newborn Screening at the Immunoassay Center. Since 1986, SUMA technology has been used in the Cuban NSP for congenital hypothyroidism, initially studying thyroid hormone in cord serum samples. In 2000, a decentralized program for the detection of hyperphenylalaninemias using heel dried blood samples was initiated. These successful experiences permitted including protocols for screening congenital adrenal hyperplasia, galactosemia, and biotinidase deficiency in 2005. A program for the newborn screening of CH using the thyroid-stimulating hormone Neonatal ultramicro-ELISA was fully implemented in 2010. Nowadays, the NSP is supported by a network of 175 SUMA laboratories. After 30 years, more than 3.8 million Cuban newborns have been screened, and 1002 affected children have been detected. Moreover, SUMA technology has been presented in Latin America for over 2 decades and has contributed to screen around 17 million newborns. These results prove that developing countries can develop appropriate diagnostic technologies for making health care accessible to all.

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“…Neonatal clinical presentation was reported based on detailed patient data from the included references. Based on recent textbooks and the literature, the treatability [16] and detectability by TMS of a DBS [17,18,19] were documented, respectively.…”

Section: Methodsmentioning

confidence: 99%

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes

et al. 2016

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Background: Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available, they even die even before the sample for NBS has been drawn or because there are IEMs which are not included in the NBS programmes. Objectives and Methods: This was a comprehensive systematic literature review to identify all IEMs associated with SID, including their treatability and detectability by NBS technologies. Reye syndrome (RS) was included in the search strategy because this condition can be considered a possible pre-stage of SID in a continuum of aggravating symptoms. Results: 43 IEMs were identified that were associated with SID and/or RS. Of these, (1) 26 can already present during the neonatal period, (2) treatment is available for at least 32, and (3) 26 can currently be identified by the analysis of acylcarnitines and amino acids in dried bloodspots (DBS). Conclusion: We advocate an extensive analysis of amino acids and acylcarnitines in blood/plasma/DBS and urine for all children who died suddenly and/or unexpectedly, including neonates in whom blood had not yet been drawn for the routine NBS test. The application of combined metabolite screening and DNA-sequencing techniques would facilitate fast identification and maximal diagnostic yield. This is important information for clinicians who need to maintain clinical awareness and decision-makers to improve population NBS programmes.

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Qualitative colorimetric ultramicroassay for the detection of biotinidase deficiency in newborns

Cited by 7 publications

References 13 publications

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil

SUMA Technology and Newborn Screening Tests for Inherited Metabolic Diseases in Cuba

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes

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