Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots

Clinica Chimica Acta

Volumn 431, Issue , 2014, Pages 19-22

  Chen, Pin Wen ^a   Lee, Ni Chung ^a   Chien, Yin Hsiu ^a   Wu, Jia Yun ^a   Wang, Ping Chun ^a   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

3 O methyldopa; Aromatic L amino acid decarboxylase; Liquid chromatography tandem mass spectrometry; Neurotransmitter

Indexed keywords

3-O-METHYL-DOPA; AROMATIC LEVO AMINO ACID DECARBOXYLASE; DOPA;

AMINO ACID METABOLISM, INBORN ERRORS; ANALOGS AND DERIVATIVES; BLOOD; CALIBRATION; CHILD; DEFICIENCY; DRIED BLOOD SPOT TESTING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INFANT; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; QUALITY CONTROL; REPRODUCIBILITY; STANDARD; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; AROMATIC-L-AMINO-ACID DECARBOXYLASES; CALIBRATION; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DIHYDROXYPHENYLALANINE; DRIED BLOOD SPOT TESTING; HUMANS; INFANT; INFANT, NEWBORN; NEONATAL SCREENING; QUALITY CONTROL; REFERENCE STANDARDS; REPRODUCIBILITY OF RESULTS; TANDEM MASS SPECTROMETRY;

EID: 84893913249     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.01.034     Document Type: Article

References (19)

1. Hyland K. Neurochemistry and defects of biogenic amine neurotransmitter metabolism. J Inherit Metab Dis 1999, 22(4):353-363.
2. Pearl P.L., et al. The pediatric neurotransmitter disorders. J Child Neurol 2007, 22(5):606-616.
3. Pons R. The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism. J Inherit Metab Dis 2009, 32(3):321-332.
4. Hyland K., Clayton P.T. Aromatic amino acid decarboxylase deficiency in twins. J Inherit Metab Dis 1990, 13(3):301-304.
5. Hyland K., et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992, 42(10):1980-1988.
6. Brun L., et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology 2010, 75(1):64-71.
7. Swoboda K.J., et al. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol 2003, 54(Suppl. 6):S49-S55.
8. Tay S.K., et al. Unusually mild phenotype of AADC deficiency in 2 siblings. Mol Genet Metab 2007, 91(4):374-378.
9. Lee H.F., et al. Aromatic L-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol 2009, 13(2):135-140.
10. Hwu W.L., et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med 2012, 4(134):134ra61.
11. Lee H.C., et al. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. Clin Chim Acta 2012, 413(1-2):126-130.
12. Hyland K. Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid. Clin Chem 2008, 54(4):633-641.
13. Cesar Ida C., et al. Simultaneous quantitation of levodopa and 3-O-methyldopa in human plasma by HPLC-ESI-MS/MS: application for a pharmacokinetic study with a levodopa/benserazide formulation. J Pharm Biomed Anal 2011, 56(5):1094-1100.
14. Dalton, N. Measurement of plasma and dried blood spot 3-O-methyldopa. in Unpublished paper presented at The AADC Research Trust International AADC Conference. 2011. London.
15. Abdenur J.E., et al. Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab 2006, 87(1):48-53.
16. Hwu W.L., et al. Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases. Top Curr Chem 2014, 336:177-196.
17. Zurfluh M.R., et al. Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Mol Genet Metab 2005, 86(Suppl. 1):S96-S103.
18. Khayat M., et al. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. Mol Genet Metab 2008, 94(4):431-434.
19. Gordin A., Kaakkola S., Teravainen H. Clinical advantages of COMT inhibition with entacapone-a review. J Neural Transm 2004, 111(10-11):1343-1363.