Classical galactosaemia in Chinese: A case report and review of disease incidence
Publication in refereed journal


香港中文大学研究人员 ( 现职)

霍泰辉教授 (儿科学系)

彭智培教授 (眼科及视觉科学学系)

伍百祥教授 (儿科学系)

王伟廉教授 (儿科学系)

邓亮生教授 (化学病理学系)

张锦流教授 (儿科学系)

全文

数位物件识别号 (DOI) http://dx.doi.org/10.1046/j.1440-1754.1999.00373.x

引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/13WOS source URL

其它资讯

摘要We report a case of galactose-1-phosphate uridyl transferase (GALT) deficiency in a full-term Chinese neonate, who presented with atypical biochemical features of hyperammonaemia in addition to the classical presenting features of jaundice and lethargy after feeding. Red cell GALT activity was virtually absent in the patient while 50% of normal activity was found in parents and a sibling. Mutation screening excluded both Q188R and N314D as the causative mutation in GALT gene, which suggested a possible genetic segregation among ethnic groups. Data from a Taiwan screening program suggested that the incidence of the disease was approximately 1 in 400 000 in the Chinese population which was a sixth of that in Caucasian populations.

着者Cheung KL, Tang NLS, Hsiao KJ, Law LK, Wong W, Ng PC, Pang CP, Applegarth DA, Fok TF, Hjelm NM
期刊名称Journal of Paediatrics and Child Health
出版年份1999
月份8
日期1
卷号35
期次4
出版社BLACKWELL SCIENCE ASIA
页次399 - 400
国际标準期刊号1034-4810
电子国际标準期刊号1440-1754
语言英式英语

关键词Chinese; galactosaemia; galactose-1-phosphate uridyl transferase
Web of Science 学科类别Pediatrics; PEDIATRICS