Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Neurology

Volumn 75, Issue 1, 2010, Pages 64-71

  Brun, L ^a   Ngu, L H ^c   Keng, W T ^c   Ch'Ng, G S ^c   Choy, Y S ^d   Hwu, W L ^e   Lee, W T ^e   Willemsen, M A A P ^f   Verbeek, M M ^f   Wassenberg, T ^f   Regal L ^g   Orcesi, S ^h   Tonduti, D ^h   Accorsi, P ^d   Testard, H ⁱ   Abdenur, J E ^j   Tay, S ^k   Allen, G F ^l   Heales, S ^l   Kern, I ^m   Kato, M ⁿ   Burlina, A ^o   Manegold, C ^p   Hoffmann, G F ^p   Blau, N ^a,b   more..

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c HOSPITAL KUALA LUMPUR   (Malaysia)

^d Prince Court Medical Centre ^*  (Italy)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^h C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

ⁱ Centre Hospitalier Intercommunal Annemasse   (France)

^j CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^k NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m Hopital des Enfants Hopitaux universitaires de Geneve   (Switzerland)

ⁿ YAMAGATA UNIVERSITY HOSPITAL   (Japan)

^o UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^p UNIVERSITY OF HEIDELBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3 O METHYLDOPA; 4 HYDROXY 3 METHOXYPHENYLETHYLENE GLYCOL; 5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; AROMATIC LEVO AMINO ACID DECARBOXYLASE; DOPAMINE RECEPTOR STIMULATING AGENT; HOMOVANILLIC ACID; LEVODOPA; MONOAMINE OXIDASE B INHIBITOR; NEUROTRANSMITTER; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE;

5 HYDROXYINDOLEACETIC ACID BRAIN LEVEL; ADOLESCENT; ADULT; AROMATIC AMINO ACID DECARBOXYLASE DEFICIENCY; ARTICLE; CEREBROSPINAL FLUID; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; GENE FREQUENCY; GENE MUTATION; GROWTH RETARDATION; HUMAN; INFANT; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; OCULOGYRIC CRISIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SCHOOL CHILD; URINE LEVEL;

EID: 77954648861     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181e620ae     Document Type: Article

References (31)

1. Hyland K, Clayton PT. Aromatic amino acid decarboxyl-ase deficiency in twins. J Inherit Metab Dis 1990;13:301-304.
2. Hyland K, Surtees RA, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 1992; 42:1980-1988.
3. Verbeek MM, Geurtz PBH, Willemsen MAAP, Wevers RA. Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. Mol Genet Metab 2007;90:363-369.
4. Swoboda KJ, Hyland K, Goldstein DS, et al. Clinical and therapeutic observations in aromatic L-amino acid decar-boxylase deficiency. Neurology 1999;53:1205-1211.
5. Chang YT, Sharma R, Marsh JL, et al. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol 2004;55:435-438.
6. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology 2004;62:1058-1065.
7. Lovenberg W, Weissbach H, Udenfriend S. Aromatic amino acid decarboxylase. J Biol Chem 1962;237:89-93.
8. Hyland K, Clayton P. Aromatic L-amino acid decarboxyl-ase deficiency: diagnostic methodology. Clin Chem 1992; 38:2405-2410.
9. Hyland K, Biaggioni I, Elpelg ON, Nyggard TG, Gibson KM. Disorders of neurotransmitter metabolism. In: Blau N, Duran M, Blaskovics M, eds. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. London: Chapman & Hall; 1996: 79-98.
10. Heales SRH. Biogenic amines. In: Blau N, Duran M, Gibson KM, eds. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Verlag; 2008: 703-715.
11. Maller A, Hyland K, Milstien S, Biaggioni I, Butler IJ. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. J Child Neurol 1997;12:349-354.
12. Haavik J, Blau N, Thony B. Mutations in human monoamine-related neurotransmitter pathway genes. Hum Mutat 2008;29:891-902.
13. Allen GF, Land JM, Heales SJ. A new perspective on the treatment of aromatic l-amino acid decarboxylase deficiency. Mol Genet Metab 2009;97:6-14.
14. Billette de Villemeur T, de Lonlay P, Poggi-Travert F, et al. Monoamine decarboxylase deficiency. Arch Pediatr 1996;3 suppl 1:167s-168s.
15. Abeling NG, van Gennip AH, van Cruchten A, Westra M, Wijburg FA, Barth PG. Aromatic-L-amino acid decarbox-ylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings. J Inherit Metab Dis 1997;20:100.
16. Korenke CG, Christen HJ, Hyland K, Hunneman DH, Hanefeld F. Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculo-gyric crises. Eur J Pediatr Neurol 1997;2/3:67-71.
17. Brautigam C, Wevers RA, Hyland K, Sharma RK, Knust A, Hoffman GF. The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. J Inherit Metab Dis 2000;23:321-324.
18. Fiumara A, Brautigam C, Hyland K, et al. Aromatic L-amino acid decarboxylase deficiency with hyperdopam-inuria: clinical and laboratory findings in response to different therapies. Neuropediatrics 2002;33:203-208.
19. Abdenur JE, Abeling N, Specola N, et al. Aromatic L-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab 2006;87:48-53.
20. Tay SK, Poh KS, Hyland K, et al. Unusually mild pheno-type of AADC deficiency in 2 siblings. Mol Genet Metab 2007;91:374-378.
21. Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ. Aromatic L-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol 2009;13:135-140.
22. Ide S, Sasaki M, Kato M, et al. Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency. Brain Dev Epub 2009 Jun 9.
23. Blau N, Duran M, Gibson KM. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer-Ver-lag; 2008.
24. Swoboda KJ, Saul JP, McKenna CE, Speller NB, Hyland K. Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. Ann Neurol 2003;54 suppl 6:S49-S55.
25. Manegold C, Hoffmann GF, Degen I, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 2009;32:371-380.
26. Burlina AB, Burlina AP, Hyland K, Bonafé L, Blau N. Autistic syndrome and aromatic L-amino acid decarboxyl-ase deficiency. J Inherit Metab Dis 2001;24:34.
27. Siegel GJ, Agranoff BW, Albers RW, Fisher SK, Uhler MD. Basic Neurochemistry: Molecular, Cellular, and Medical Aspects. Philadelphia: Lippincott Williams & Wilkins; 1999.
28. Ito S, Nakayama T, Ide S, et al. Aromatic l-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. Dev Med Child Neurol 2008;50:1-3.
29. Anselm IA, Darras BT. Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol 2006;35:142-144.
30. Hoffmann GF, Surtees R. Disorders of neurotransmission. In: Blau N, Hoffmann G, Leonard J, Clarke J, eds. Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. Heidelberg: Springer; 2006: 35-42.
31. Eberling JL, Jagust WJ, Christine CW, et al. Results from a phase I safety trial of hAADC gene therapy for Parkinson disease. Neurology 2008;70:1980-1983.