Report of two never treated adult sisters with aromatic l-amino acid decarboxylase deficiency: A portrait of the natural history of the disease or an expanding phenotype?

JIMD Reports

Volumn 15, Issue , 2015, Pages 39-45

  Leuzzi, Vincenzo ^a   Mastrangelo, Mario ^a   Polizzi, Agata ^b,c   Artiola, Cristiana ^a   van Kuilenburg, André B P ^d   Carducci, Carla ^a   Ruggieri, Martino ^e   Barone, Rita ^e   Tavazzi, Barbara ^f   Abeling, Nico G G M ^d   Zoetekouw, Lida ^d   Sofia, Vito ^e   Zappia, Mario ^e   Carducci, Claudia ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b National Centre for Rare Diseases   (Italy)

^c INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF CATANIA   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

Author keywords

Biogenic amine; Cerebral palsy; Mild presentation; Palpebral ptosis; Progressive neurological disease

Indexed keywords

EID: 85009753904     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_295     Document Type: Chapter

References (18)

1. Brun L, Ngu LH, Keng WT et al (2010) Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology 75:64–71
2. Chang YT, Sharma R, Marsh JL et al (2004) Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol 55:435–438
3. Fiumara A, Bräautigam C, Hyland K et al (2002) Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics 33:203–208
4. Hartleb J, Eue S, Kemper A (2003) Simultaneous analysis of homovanillic acid, 5-hydroxyindoleacetic acid, 3-methoxy-4-hydroxy-phenylethylene glycol and vanilmandelic acid in plasma from alcoholics by high performance liquid chromatography with electrochemical detection. J Chrom 622:161–171
5. Hyland K, Clayton PT (1992) Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. Clin Chem 38(12): 2405–2410
6. Hyland K, Surtees RAH, Rodeck C, Clayton PT (1992) Aromatic L-amino acid decarboxylase: deficiency: clinical features, diagnosis and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology 42:1980–1988
7. Lee NC, Shieh YD, Chien YH, Tzen KY, Yu IS, Chen PW, Hu MH, Hu MK, Muramatsu S, Ichinose H, Hwu WL (2013) Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. Neurobiol Dis 52:177–190
8. Lee HF, Tsai CR, Chi CS et al (2009) Aromatic L-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol 13:135–140
9. Manegold C, Hoffmann GF, Degen I et al (2009) Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis 32:371–380
10. Mastrangelo M, Caputi C, Galosi S, Giannini MT, Leuzzi V (2013) Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. Mov Disord 28:556–557
11. Pons R, Ford B, Chiriboga CA et al (2004) Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology 62:1058–1065
12. Reisert I, Pilgrim C (1991) Sexual differentiation of monoaminergic neurons–genetic or epigenetic? Trends Neurosci 14:468–473
13. Scheer HW, Lavoie PA (1991) Mechanism of aminopyridine-induced release of [3H]dopamine from rat brain Synaptosomes. Gen Pharmacol 22:169–172
14. Segawa M (2011) Hereditary progressive dystonia with marked diurnal fluctuation. Brain Dev 33:195–201
15. Tay SKH, Poh KS, Hyland K et al (2007) Unusually mild phenotype of AADC deficiency in 2 siblings. Mol Genet Metab 91:374–378
16. Venselaar H, Te Beek TA, Kuipers RK, Hekkelman ML et al (2010) Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 11:548
17. Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA (2007) Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes. Mol Genet Metab 90: 363–369
18. Wassenberg T, Monnens LA, Geurtz BP, Wevers RA, Verbeek MM, Willemsen MA (2012) The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained. JIMD Rep 4:39–45