Abstract
Objectives: Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare inherited disorder of monoamine neurotransmitter synthesis; this deficiency leads to psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. This study aimed to provide further insight into the clinical course of AADC deficiency in Taiwan.
Patients and Methods: We present a retrospective, descriptive, single-center study of 37 children with a confirmed diagnosis of AADC deficiency. Their medical histories were reviewed for motor milestones, motor development, DDC mutation, and body weight. The termination point for each patient in this study was defined as no further follow-up, death, or enrollment in a gene therapy trial.
Results: The median age of the study patients at the end of the study was 4.39 years (1.28–11.30). Of the 37 patients, 36 did not develop full head control, sitting ability, standing ability, or speech at any time point from birth to the termination points. Motor scales were administered to 22 patients. Their Alberta Infant Motor Scale scores were below the fifth percentile, and their Peabody Developmental Motor Scales, Second Edition, scores were below the first percentile. Their body weights were normal in the first few months of life, but severe growth retardation occurred at later ages. The mutation c.714+4A>T (IVS6+4A>T) accounted for 76% of all their DDC mutations.
Conclusion: In this chapter, we report the clinical course of AADC deficiency in Taiwan. Our data will help guide the development of treatment strategies for the disease.
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Communicated by: Saskia Brigitte Wortmann, M.D., Ph.D.
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Synopsis
Patients with severe aromatic l-amino acid decarboxylase deficiency, which is more prevalent in Taiwan, present with profound motor dysfunction and failure to gain weight.
Contributions of Individual Authors
Wuh-Liang Hwu: study design, patient care, and writing.
Yin-Hsiu Chien: patient care and writing.
Ni-Chung Lee: patient care.
Mei-Hsin Li: patient care assistant.
Conflict of Interest
Wuh-Liang Hwu received research grants from Agilis Biotherapeutics, USA.
Funding
Research fund for AADC deficiency, National Taiwan University Hospital.
Ethics Approval
This long-term follow-up study for AADC deficiency was approved by the Institutional Review Board of National Taiwan University Hospital (201303100RIND). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients before participation in the study.
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© 2017 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Hwu, WL., Chien, YH., Lee, NC., Li, MH. (2017). Natural History of Aromatic l-Amino Acid Decarboxylase Deficiency in Taiwan. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 40. JIMD Reports, vol 40. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_54
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DOI: https://doi.org/10.1007/8904_2017_54
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