本文選題：芳香族L-氨基酸脫羧酶　切入點(diǎn)：肌張力低下　出處：《中國當(dāng)代兒科雜志》2017年01期 　論文類型：期刊論文

【摘要】：芳香族L-氨基酸脫羧酶(AADC)缺乏癥是一種罕見的常染色體隱性遺傳病,為AADC缺乏導(dǎo)致的先天性神經(jīng)遞質(zhì)生物合成的代謝紊亂。主要表現(xiàn)為肌張力低下、動(dòng)眼危象、自主神經(jīng)功能紊亂、發(fā)育落后等,目前尚無成熟的治療方法。該文報(bào)道1例表現(xiàn)為發(fā)育落后、肌張力低下、動(dòng)眼危象的男性患兒,代謝性疾病基因篩查發(fā)現(xiàn)多巴胺脫羧酶(DDC)基因外顯子區(qū)域存在新的復(fù)合雜合突變:c.1063dup A(p.I355fs)、c.250AC(p.S84R),血濾紙片3-O-甲基多巴明顯升高,因此確診為AADC缺乏癥。給予多巴胺受體激動(dòng)劑鹽酸普拉克索、兒茶酚-O-甲基轉(zhuǎn)移酶抑制劑恩他卡朋聯(lián)合維生素B6治療,患兒肌張力低下、眼瞼下垂、動(dòng)眼危象得到輕度改善。臨床醫(yī)師應(yīng)提高對AADC缺乏癥這一罕見病的識(shí)別能力,對肌張力低下、運(yùn)動(dòng)落后、動(dòng)眼危象的患兒應(yīng)考慮到此病,以期予以早期診斷及治療,并為有需要的患兒父母提供優(yōu)生遺傳咨詢及產(chǎn)前診斷。
[Abstract]:Aromatic L-amino acid decarboxylase deficiency is a rare autosomal recessive disorder, which is a metabolic disorder of congenital neurotransmitter biosynthesis caused by AADC deficiency. It is characterized by hypotonia and oculomotor crisis. There is no mature treatment for autonomic nervous dysfunction and developmental retardation. This paper reports a case of male children with developmental retardation, hypotonia and oculomotor crisis. Metabolic disease gene screening revealed that there was a new complex heterozygous mutation in the exon region of dopamine decarboxylase (DDC) gene, and that there was a new complex heterozygosity mutation in the exon region of dopamine decarboxylase (DDC) gene. A new complex heterozygous mutation was found in the exon region of dopamine decarboxylase gene. A new hybrid mutation was found in the exon region of dopamine decarboxylase. Therefore, AADC deficiency was diagnosed. The children were treated with dopamine receptor agonist Praquisol Hydrochloride, catechol-O-methyltransferase inhibitor Entakaben and Vitamin B6. The children suffered from hypotonia and blepharoptosis. The oculomotor crisis was slightly improved. The clinicians should improve their ability to recognize the rare disease of AADC deficiency, and should take this disease into account for the children with low muscular tension, backward movement and oculomotor crisis, with a view to early diagnosis and treatment. It also provides eugenic genetic counseling and prenatal diagnosis for children in need.
【作者單位】： 湖北省婦女兒童醫(yī)院兒童內(nèi)分泌遺傳代謝科;

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