Aromatic L-amino Acid decarboxylase (AADC) Deficiency: A Case Report

芳香族L-胺基酸類脫羧基酵素缺乏症：病例報告

李威成(Wei-Cheng Li) ； 鄭可欣(Ke-Hsin Cheng) ； 李忠興(Chung-Hsing Li)

《臺灣兒童牙醫學雜誌》 12卷1期 (2012/04) Pp. 28-32

https://doi.org/10.6319/TJPD.2012.12(1).5

摘要

AADC缺乏症是一種罕見的體染色體隱性遺傳疾病，由於AADC酵素缺乏，使得神經傳導物質兒茶酚胺（catecholamines）及血清素（serotonin）合成減少。此類疾病主要影響的為交感神經的自主調控。其臨床表徵為間歇性的眼球不正常運動、全身肌肉下垂、手足不自主移動、深部肌腱反射、鼻塞、舌頭不正常往前頂、吞嚥困難、發汗、低血壓、低血糖、手足大小比正常小、難以存活等。其中一些臨床特徵也有可能會導致前牙開咬等牙科方面的問題，除此之外，若AADC缺乏症患者需要接受全身性麻醉，則自主神經失調的狀況必須加以考量以確保麻醉處理的安全性。

並列摘要

AADC deficiency is a rare autosomal recessive disorder reducing the synthesis of neurotransmitter of catecholamines and serotonin and it only affects the sympathetic autoregulation. The clinical manifestations of AADC deficiency are oculogyric crises, floppiness, athetosis, deep tendon reflex, nasal congestion, tongue thrusting, difficulty swallowing, diaphoresis, hypotention, hypoglycemia, small hands and feet, and failure to thrive etc. Anterior openbite may be a major related dental problem due to the clinical manifestations. Moreover, the decreased/absent adrenergic, noradrenergic sympathetic activity and more aggressive dental treatment should be considered in AADC deficiency patients for dental treatment under sedation or general anesthesia.

並列關鍵字

Aromatic L-amino acid decarboxylase(AADC) ； tongue thrusting ； difficulty swallowing ； anterior openbite