Stability of amino acids, free and acyl-carnitine in stored dried blood spots.
dried blood spot
inborn error of metabolism
newborn screening
sudden infant death syndrome
tandem mass spectrometry
Journal
Pediatrics international : official journal of the Japan Pediatric Society
ISSN: 1442-200X
Titre abrégé: Pediatr Int
Pays: Australia
ID NLM: 100886002
Informations de publication
Date de publication:
Jan 2022
Jan 2022
Historique:
revised:
05
11
2021
received:
22
05
2021
accepted:
19
11
2021
pubmed:
25
11
2021
medline:
16
3
2022
entrez:
24
11
2021
Statut:
ppublish
Résumé
Newborn screening of inborn errors of metabolism using tandem mass spectrometry has become a public health strategy in many developed countries. Retrospective analyses using stored dried blood specimens have been limited, mainly due to a lack of biochemical information on the long-term stability of acylcarnitines and amino acids in stored specimens. We studied the characteristic profiles of the stability of amino acid, free carnitine, and acyl carnitines in dried blood specimens stored in a refrigerator after newborn screening. Dried blood specimens from 198 healthy newborns, which had been stored in a refrigerator at 5 °C after newborn screening, were prospectively subjected to tandem mass spectrometry analyses after 1, 3, 6 months, 1 and 2 years of storage. We also retrospectively re-analyzed the stored samples from 90 newborns, which had been analyzed and stored at 5 °C for 4 years. We found that proline (Pro) and tyrosine (Tyr) were stable for 2 years, and that alanine (Ala), arginine (Arg), and phenylalanine (Phe) decayed with linear regression. The C0 increased during the time-course of 2 years, whereas most acylcarnitines gradually decayed and some showed a linear correlation. The retrospective analysis of samples stored for 4 years revealed that Ala, Phe, Pro and Tyr were almost stable, leucine (Leu), valine (Val) decayed with linear regression, C0 increased, and C10, C12, C14, C14:1, C16, C18, C18:1 decreased, while maintaining a linear correlation. These data suggested that some metabolic parameters from refrigerator-stored dried blood specimens were applicable for the detection of inborn errors of metabolism.
Sections du résumé
BACKGROUND
BACKGROUND
Newborn screening of inborn errors of metabolism using tandem mass spectrometry has become a public health strategy in many developed countries. Retrospective analyses using stored dried blood specimens have been limited, mainly due to a lack of biochemical information on the long-term stability of acylcarnitines and amino acids in stored specimens. We studied the characteristic profiles of the stability of amino acid, free carnitine, and acyl carnitines in dried blood specimens stored in a refrigerator after newborn screening.
METHODS
METHODS
Dried blood specimens from 198 healthy newborns, which had been stored in a refrigerator at 5 °C after newborn screening, were prospectively subjected to tandem mass spectrometry analyses after 1, 3, 6 months, 1 and 2 years of storage. We also retrospectively re-analyzed the stored samples from 90 newborns, which had been analyzed and stored at 5 °C for 4 years.
RESULTS
RESULTS
We found that proline (Pro) and tyrosine (Tyr) were stable for 2 years, and that alanine (Ala), arginine (Arg), and phenylalanine (Phe) decayed with linear regression. The C0 increased during the time-course of 2 years, whereas most acylcarnitines gradually decayed and some showed a linear correlation. The retrospective analysis of samples stored for 4 years revealed that Ala, Phe, Pro and Tyr were almost stable, leucine (Leu), valine (Val) decayed with linear regression, C0 increased, and C10, C12, C14, C14:1, C16, C18, C18:1 decreased, while maintaining a linear correlation.
CONCLUSIONS
CONCLUSIONS
These data suggested that some metabolic parameters from refrigerator-stored dried blood specimens were applicable for the detection of inborn errors of metabolism.
Identifiants
pubmed: 34817917
doi: 10.1111/ped.15072
pmc: PMC9313883
doi:
Substances chimiques
Amino Acids
0
Carnitine
S7UI8SM58A
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e15072Subventions
Organisme : Japan Society for the Promotion of Science
ID : 18K10465
Organisme : BURST (Bundai Researcher Team)
ID : 15
Informations de copyright
© 2021 The Authors. Pediatrics International published by John Wiley & Sons Australia, Ltd on behalf of Japan Pediatric Society.
Références
Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998; 102: E69.
Therrell BL Jr, Padilla CD. Newborn screening in the developing countries. Curr. Opin. Pediatr. 2018; 30: 734-9.
Therrell BL, Padilla CD, Loeber JG et al. Current status of newborn screening worldwide: 2015. Semin. Perinatol. 2015; 39(3): 171-87.
Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH. Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: Outcome and challenges. J. Pediatr. Endocrinol. Metab. 2016; 29(9): 1031-9.
Fabie NAV, Pappas KB, Feldman GL. The current state of newborn screening in the United States. Pediatr. Clin. North Am. 2019; 66: 369-86.
Alfadhel M, Al Othaim A, Al Saif S et al. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders. J. Paediatr. Child Health 2017; 53: 585-91.
Golbahar J, Al-Jishi EA, Altayab DD, Carreon E, Bakhiet M, Alkhayyat H. Selective newborn screening of inborn errors of amino acids, organic acids and fatty acids metabolism in the Kingdom of Bahrain. Mol. Genet. Metab. 2013; 110: 98-101.
Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N. Engl. J. Med. 2003; 348: 2304-12.
Shibata N, Hasegawa Y, Yamada K et al. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening. Mol. Genet. Metab. Rep. 2018; 16: 5-10.
Yamaguchi S. Newborn screening in Japan: Restructuring for the new era. Ann. Acad. Med. Singap. 2008; 37(12 Suppl): 13-5.
Takahashi T, Yamada K, Kobayashi H et al. Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events. Pediatr. Int. 2015; 57: 348-53.
Olpin SE. The metabolic investigation of sudden infant death. Ann. Clin. Biochem. 2004; 41: 282-93.
Fingerhut R, Ensenauer R, Roschinger W, Arnecke R, Olgemoller B, Roscher AA. 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. Anal. Chem. 2009; 81: 3571-5.
Prentice P, Turner C, Wong MC, Dalton RN. Stability of metabolites in dried blood spots stored at different temperatures over a 2-year period. Bioanalysis 2013; 5(12): 1507-14.
Strnadova KA, Holub M, Muhl A et al. Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin. Chem. 2007; 53: 717-22.
Adam BW, Hall EM, Sternberg M et al. The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States. Clin. Biochem. 2011; 44(17-18): 1445-50.
Golbahar J, Altayab DD, Carreon E. Short-term stability of amino acids and acylcarnitines in the dried blood spots used to screen newborns for metabolic disorders. J. Med. Screen. 2014; 21: 5-9.
van Rijt WJ, Schielen P, Ozer Y et al. Instability of acylcarnitines in stored dried blood spots: The impact on retrospective analysis of biomarkers for inborn errors of metabolism. Int. J. Neonatal. Screen. 2020; 6: 83.
Douglas CM, van El CG, Faulkner A, Cornel MC. Governing biological material at the intersection of care and research: The use of dried blood spots for biobanking. Croat. Med. J. 2012; 53: 390-7.
Olney RS, Moore CA, Ojodu JA, Lindegren ML, Hannon WH. Storage and use of residual dried blood spots from state newborn screening programs. J. Pediatr. 2006; 148: 618-22.
Nordfalk F, Ekstrom CT. Newborn dried blood spot samples in Denmark: The hidden figures of secondary use and research participation. Eur. J. Hum. Genet. 2019; 27: 203-10.
Almannai M, Alfadhel M, El-Hattab AW. Carnitine inborn errors of metabolism. Molecules 2019; 24: 3251.
Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: An overview of clinical manifestations, diagnosis, and management. Orphanet. J. Rare Dis. 2012; 7: 68.
Virmani A, Pinto L, Bauermann O et al. The carnitine palmitoyl transferase (CPT) system and possible relevance for neuropsychiatric and neurological conditions. Mol. Neurobiol. 2015; 52: 826-36.
Longo N, di San A, Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am. J. Med. Genet. C Semin. Med. Genet. 2006; 142C: 77-85.
Blau N. Genetics of phenylketonuria: Then and now. Hum. Mutat. 2016; 37: 508-15.
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet.s 2010; 376(9750): 1417-27.
Kaku N, Ihara K, Hirata Y et al. Diagnostic potential of stored dried blood spots for inborn errors of metabolism: A metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. J. Clin. Pathol. 2018; 71: 885-9.
Shigematsu Y, Hirano S, Hata I et al. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2002; 776: 39-48.