Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 2, 2010, Pages

  Shigematsu, Yosuke ^a   Hata, Ikue ^a   Tajima, Go ^b  

^a UNIVERSITY OF FUKUI   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; BIOLOGICAL MARKER; CARNITINE; DRUG DERIVATIVE; GLYCINE; HYDRACRYLIC ACID; ISOVALERYL COENZYME A DEHYDROGENASE; LACTIC ACID; METHYLMALONIC ACID; N ISOVALERYLGLYCINE; N-ISOVALERYLGLYCINE; PROPIONYLCARNITINE;

ARTICLE; BLOOD; BLOOD SAMPLING; CASE CONTROL STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; HOSPITALIZATION; HUMAN; INBORN ERROR OF METABOLISM; JAPAN; LABORATORY DIAGNOSIS; LIQUID CHROMATOGRAPHY; MASS FRAGMENTOGRAPHY; METHODOLOGY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PREDICTIVE VALUE; RETROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY; URINE;

AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGICAL MARKERS; BLOOD SPECIMEN COLLECTION; CARNITINE; CASE-CONTROL STUDIES; CHROMATOGRAPHY, LIQUID; FALSE POSITIVE REACTIONS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLYCINE; HUMANS; INFANT, NEWBORN; ISOVALERYL-COA DEHYDROGENASE; JAPAN; LACTIC ACID; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; NEONATAL SCREENING; PILOT PROJECTS; PREDICTIVE VALUE OF TESTS; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; TANDEM MASS SPECTROMETRY;

EID: 79952279736     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9111-9     Document Type: Article

References (14)

1. Campbell CD, Ganesh J, Ficicioglu C (2005) Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica 90(Suppl):ECR45
2. Ensenauer R, Vockley J, Willard JM et al. (2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75:1136-1142
3. Kuhara T, Shinka T, Inoue Y et al. (1999) Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. J Chromatogr B Biomed Sci Appl 731:141-147
4. la Marca G, Malvagia S, Pasquini E et al. (2007) Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin Chem 53:1364-1369
5. Lindner M, Ho S, Kölker S et al. (2008) Newborn screening for methylmalonic acidurias-optimization by statistical parameter combination. J Inherit Metab Dis 31:379-385
6. Marble M, Copeland S, Khanfar N et al. (2008) Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening. J Pediatr 152:731-733
7. Shigematsu Y, Hirano S, Hata I et al. (2002) Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B 776:39-48
8. Shigematsu Y, Hata I, Tanaka Y et al. (2005) Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening. J Chromatogr B 823:7-12
9. Shigematsu Y, Hata I, Tanaka Y (2007) Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia. Clin Chim Acta 386:82-86
10. Sniderman LC, Lambert M, Giguère R et al. (1999) Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J Pediatr 134:675-682
11. Tajima G, Sakura N, Yofune H et al. (2005) Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatography. Clin Chim Acta 353:193-199
12. Vockley J, Ensenauer R (2006) Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 142C(2):95-103
13. Wiley V, Carpenter K, Wilcken B (1999) Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Acta Paediatr Suppl 88:48-51
14. Yorifuji T, Kawai M, Muroi J et al. (2002) Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet 111:161-165