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First report of HGD mutations in a Chinese with alkaptonuria
Authors:Yong-jia Yang  Ji-hong Guo  Wei-jian Chen  Rui Zhao  Jin-song Tang  Xiao-hua Meng  Liu Zhao  Ming Tu  Xin-yu He  Ling-qian Wu  Yi-min Zhu
Affiliation:1. The Lab. of Genetics and Metabolism, Hunan Children''s Research Institute (HCRI), Hunan Children''s Hospital, University of South China, Changsha, China;2. State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China;3. The Lab. of Pathology, Hunan Children''s Research Institute (HCRI), Hunan Children''s Hospital, University of South China, Changsha, China;4. Institute of Mental Health, Second Xiangya Hospital, Central South University, Changsha, China;5. BGI-Shenzhen, Shenzhen, Guangdong Province, China;6. Department of Emergency, Hunan Children''s Hospital, University of South China, Changsha, China
Abstract:Alkaptonuria (AKU) is one of the first prototypic inborn errors in metabolism and the first human disease found to be transmitted via Mendelian autosomal recessive inheritance. It is caused by HGD mutations, which leads to a deficiency in homogentisate 1,2-dioxygenase (HGD) activity.
Keywords:AKU, Alkaptonuria   HGD, homogentisate 1,2-dioxygenase   GC/MS, gas chromatography/mass spectrometry
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