Bloodspot acylcarnitine and amino acid analysis in cord blood samples: Efficacy and reference data from a large cohort study

Journal of Inherited Metabolic Disease

Volumn 32, Issue 1, 2009, Pages 95-101

  Walter, John H ^a   Patterson, A ^b   Till, J ^a   Besley, G T N ^a   Fleming, G ^a   Henderson, M J ^b  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMINO ACID; ARGININOSUCCINATE SYNTHASE; CARNITINE TRANSPORTER; GLUTARIC ACID; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; METHYLCROTONOYL COENZYME A CARBOXYLASE; METHYLMALONIC ACID; UNCLASSIFIED DRUG;

AMINO ACID ANALYSIS; ARTICLE; BLOOD ANALYSIS; CITRULLINEMIA; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC VALUE; EARLY INTERVENTION; GENETIC SCREENING; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; INBORN ERROR OF METABOLISM; INFANT; MAPLE SYRUP URINE DISEASE; MATERNAL CARNITINE TRANSPORTER DEFECT; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METHYLCROTONOYL COENZYME A CARBOXYLASE DEFICIENCY; METHYLMALONIC ACIDEMIA; NEWBORN SCREENING; PHENYLKETONURIA; PROGNOSIS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; UMBILICAL CORD BLOOD;

AMINO ACIDS; BLOOD CHEMICAL ANALYSIS; BLOOD SPECIMEN COLLECTION; CARNITINE; COHORT STUDIES; EFFICIENCY; FALSE NEGATIVE REACTIONS; FETAL BLOOD; FETAL DISEASES; HUMANS; INFANT, NEWBORN; METABOLIC DISEASES; MOTHERS; NEONATAL SCREENING; REFERENCE VALUES; TIME FACTORS;

EID: 59749105166     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1047-y     Document Type: Article

References (16)

1. de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM (2005) Methylmalonic and propionic acidaemias: Management and outcome. J Inherit Metab Dis 28(3): 415-423. doi: 10.1007/s10545-005-7056-1.
2. Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B (2006) 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29(2-3): 383-389. doi: 10.1007/s10545-006-0278-z.
3. Hutchesson AC, Bundey S, Preece MA, Hall SK, Green A (1998) A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK. J Med Genet 35(5): 366-370.
4. Leonard JV (1995) The management and outcome of propionic and methylmalonic acidaemia. J Inherit Metab Dis 18(4): 430-434. doi: 10.1007/BF00710054.
5. Leonard JV, Daish P, Naughten ER, Bartlett K (1984) The management and long term outcome of organic acidaemias. J Inherit Metab Dis 7(Supplement 1): 13-17.
6. Nassogne MC, Heron B, Touati G, Rabier D, Saudubray JM (2005) Urea cycle defects: Management and outcome. J Inherit Metab Dis 28(3): 407-414. doi: 10.1007/s10545-005-0303-7.
7. Naughten ER, Jenkins J, Francis DE, Leonard JV (1982) Outcome of maple syrup urine disease. Arch Dis Child 57(12): 918-921.
8. Patterson A, Pourfarzam M, Henderson MJ (2000) The utility of cord blood analysis in the diagnosis of organic acidaemias. J Inherit Metab Dis 23(Supplement 1): 84.
9. Phillips P, Dalton RN, Besley G, et al (2005) Newborn screening for MCAD deficiency at one week of age. J Inherit Metab Dis 28(Supplement 1): 9.
10. Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications. Pediatrics 111(6 Pt 1): 1399-1406. doi: 10.1542/ peds.111.6.1399.
11. Shortland GJ, Besley G, Bonham J, et al (2006) Newborn screening for MCADD: Findings from a multicentre UK prospective collaborative study. J Inherit Metab Dis 29(Supplement 1): 19.
12. Surtees RA, Matthews EE, Leonard JV (1992) Neurologic outcome of propionic acidemia. Pediatr Neurol 8: 333-337. doi: 10.1016/ 0887-8994(92)90085-D.
13. van der Meer SB, Poggi F, Spada M, et al (1996) Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur J Pediatr 155(3): 205-210. doi: 10.1007/BF01953939.
14. Vijay S, Patterson A, Olpin S, et al (2006) Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J Inherit Metab Dis 29(5): 627-630. doi: 10.1007/s10545-006-0376-y.
15. Wilcken B, Haas M, Joy P, et al (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study. Lancet 369(9555): 37-42. doi: 10.1016/S0140-6736(07)60029-4.
16. Wiley V, Carpenter K, Wilcken B (1999) Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. Acta Paediatr Suppl 88(432): 48-51. doi: 10.1080/080352599750029376.