Quantitative ultramicrotest for newborn screening of galactosemia in Cuba

Frómeta, Amarilys; Reyes, Ernesto Carlos González; Castells, Elisa; Tejeda, Yileidis; Almenares, Pedro; Pérez, Pedro L.

doi:10.1515/jpm.2010.135

Cited by 3 publications

(2 citation statements)

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“…The resulting fluorescence is directly proportional to the amount of GAL in DBS. 14 The ultramicroassay described initially used 70 µL of deproteination solution, which was subsequently modified to 30 µL in the year 2014.…”

Section: Methodsmentioning

confidence: 99%

“…The resulting fluorescence is directly proportional to the amount of GAL in DBS. 14 The ultramicroassay described initially used 70 mL of deproteination solution, which was subsequently modified to 30 mL in the year 2014. In all quantitative assays described, automatic validation and interpretation of the results are done using a dedicated SUMA assay software.…”

Section: Ultramicroassays For Neonatal Screening Supported By Suma Tementioning

confidence: 99%

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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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Section: Methodsmentioning

confidence: 99%

Section: Ultramicroassays For Neonatal Screening Supported By Suma Tementioning

confidence: 99%