Abstract #2309

Altered microstructural integrity of white matter tracts in children with aromatic L-amino acid decarboxylase deficiency

Chih-Hsien Tseng^1,2, Wuh-Liang Hwu^3,4, Yu-Jen Chen¹, Yun-Chin Hsu¹, and Wen-Yih Isaac Tseng^1,2,5,6

¹Institute of Medical Device and Imaging, National Taiwan University College of Medicine, Taipei, Taiwan, ²Institute of Biomedical Engineering, National Taiwan University College of Medicine, Taipei, Taiwan, ³Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ⁴Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ⁵Graduate Institute of Brain and Mind Sciences, National Taiwan University College of Medicine, Taipei, Taiwan, ⁶Molecular Imaging Center, National Taiwan University, Taipei, Taiwan

Aromatic L-amino acid decarboxylase (AADC) deficiency is an inherited disorder that impairs synthesis of dopamine and serotonin. To investigate whether the white matter tracts are impaired in children with AADC deficiency, diffusion tensor imaging data were obtained from 7 children with AADC deficiency and 7 matched controls. Fractional anisotropy (FA) of 76 white matter tracts was measured and compared between the two groups. Fiber tracts of dopaminergic and serotonergic systems, and those connecting regions responsible for executive functions or regulating motor functions showed lower FA in patients. Our findings are consistent with clinical manifestations and pathophysiology of AADC deficiency.

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