Stability of Acylcarnitines and Free Carnitine in Dried Blood Samples: Implications for Retrospective Diagnosis of Inborn Errors of Metabolism and Neonatal Screening for Carnitine Transporter Deficiency

2009 ◽  
Vol 81 (9) ◽  
pp. 3571-3575 ◽  
Author(s):  
Ralph Fingerhut ◽  
Regina Ensenauer ◽  
Wulf Röschinger ◽  
Ralf Arnecke ◽  
Bernhard Olgemöller ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Free Carnitine ◽  
Inborn Errors ◽  
Blood Samples ◽  
Retrospective Diagnosis ◽  
Carnitine Transporter ◽  
Transporter Deficiency

Neonatal screening for inborn errors of metabolism

The Lancet ◽  
2005 ◽  
Vol 365 (9478) ◽  
pp. 2176 ◽  
Author(s):  
Pia Hardelid ◽  
Carol Dezateux
Keyword(s):  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

Lysosomal Newborn Screening in a Cohort in Mexican Population-

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5581-5581
Author(s):  
Juana Ines Navarrete
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Fabry Disease ◽  
Pompe Disease ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Inborn Errors ◽  
Storage Diseases

Abstract INTRODUCTION: The goal of newborn screening is an early detection of inborn erros of metabolism diseases. In Mexico we began newborn screening since 1977 with very few inborn errors of metabolism such as phenylketonuria, galactosemia, congenital hypothyroidism, sickle cell anemia and cytic fibrosis (1). Since that date we have been increasing our newborn screening our newborn screening slowly and now a days we screen in most states of the country 15 inborn errors of metabolism(2). In 2012 we started with some patients through out the country a wider neonatal screening that include 5 lysosomal storage diseases. MATERIAL AND METHODS: Petróleos Mexicanos is a big governmental institution with approximately 10,000 workers and their families. Since 2005 a larger newborn screening has been done to all newborns in this institution through all the country. We test for most aminoacidopathies, including acidurias, hemoglobinopathies, G6PD deficiency, adrenal hyperplasia, cystic fibrosis and biotinidase deficiency; since August 2012 we included 6 lysosomal storage diseases; Gaucher disease, Fabry disease, Hurler disease, Pompe disease, Niemann-Pick type A and B disease and Krabbe disease. RESULTS: Up to date we have screened 10,853 newborns, we have found 9 patients with lysosomal storage diseases. We found 4 newborns with mutations for Fabry disease, 4 newborns with Pompe disease, three were pseudodeficiencies and one was combined heterozygous for a late onset presentation and pseudodeficiencies and 1 patient with Hurler disease (Table 2). We present here our clinical correlation between genotype-phenotype in these patients. We found a frequency in our population of 1 in 2713 newborns for both Fabry and Pompe disease. DISCUSSION: Newborn screening is a major public health achievement that has improve the morbidity and mortality of inborn errors of metabolism. The introduction of newborn screening for lysosomal storage diseases presents new challenges. This is the first latinamerican study of early detection of lysosomal storage diseases made by neonatal screening there are about 11 similar international studies. It is important point out that the most common lysosomal storage disease found in our study was Pompe diseases the pseudodeficiency type and Fabry disease type II with a frequency of 1 in 2713 newborns for both diseases. Spada et al; and Hwu et al; have reported frequencies of 1 in 1250 to 3100 male newborns. The mutation most commonly found was c.1088G>A, (p.R363H) for Fabry disease and c.1726G>A(p.G576S) for Pompe disease. References: 1. Nakamura K, Am J Med Genet Part C, 2011; 157, 63-71. 2. Zhou et al, J. Pediatr 2011 159 1 7-13. 3. Alterescu GM, Clin. Genet 2001:60:46-51. 2001. 4. Desnick R. J.: Enzyme Replacement Therapy and Enhancement therapies for Lysosomal Storage Diseases. J. Inher Metab Dis 2004; 27:385-4013. Disclosures No relevant conflicts of interest to declare.

scholarly journals A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism

1998 ◽  
Vol 20 (3) ◽  
pp. 331-343 ◽  
Author(s):  
M. J. Thomason ◽  
J. Lord ◽  
M. D. Bain ◽  
R. A. Chalmers ◽  
P. Littlejohns ◽  
...  
Keyword(s):  
Systematic Review ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

scholarly journals An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0134782 ◽  
Author(s):  
Kittiphong Thiboonboon ◽  
Pattara Leelahavarong ◽  
Duangrurdee Wattanasirichaigoon ◽  
Nithiwat Vatanavicharn ◽  
Pornswan Wasant ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Economic Evaluation ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Tandem Mass ◽  
Inborn Errors

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism

2010 ◽  
Vol 33 (S3) ◽  
pp. 43-49 ◽  
Author(s):  
Mireia Tondo ◽  
Nilo Lambruschini ◽  
Lilianne Gomez-Lopez ◽  
Alejandra Gutierrez ◽  
Juan Moreno ◽  
...  
Keyword(s):  
Trace Elements ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Blood Samples
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