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?

• DOI: 10.1007/8904_2014_295
• Publication Date: 2014-04-30T09:58:49Z
• Authors: Vincenzo Leuzzi; Mario Mastrangelo; Agata Polizzi; Cristiana Artiola; André B. P. van K...; Carla Carducci; Martino Ruggieri; Rita Barone; Barbara Tavazzi; Nico G. G. M. Abe...; Lida Zoetekouw; Vito Sofia; Mario Zappia; Claudia Carducci
• Keywords: 5-Hydroxytryptophan

Two sisters were diagnosed in their adulthood with aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM#608643). They experienced early myasthenia-like manifestations, myoclonic jerks, oculogyric crises, tremors, and developmental delay during childhood; clinical stabilization afterwards; spontaneous improvement adolescence young adulthood. novel pathogenic mutations on DDC gene [p.Tyr37Thrfs*5 (c.105delC) p.F237S (c.710 T>C)] associated undetectable enzyme activity plasma only a mild reduction of biogenic amines cerebrospinal fluid (CSF). The increase both 3-O-methyldopa 5-hydroxytryptophan CSF was the most relevant biochemical alteration denoting AADC defect these subjects. Transdermal rotigotine remarkably improved gross motor functions asthenic status they complained. present cases broaden phenotypic spectrum suggest that (1) is not progressive neurological disease behaves rather as neurodevelopmental disorder improves second decade life; (2) treatment-naïve adults can still respond well to neurotransmitter therapy; (3) possibility presentation should be considered when examining parkinsonian symptoms.