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


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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.
著者Cheung KL, Tang NLS, Hsiao KJ, Law LK, Wong W, Ng PC, Pang CP, Applegarth DA, Fok TF, Hjelm NM
期刊名稱Journal of Paediatrics and Child Health
出版年份1999
月份8
日期1
卷號35
期次4
出版社BLACKWELL SCIENCE ASIA
頁次399 - 400
國際標準期刊號1034-4810
電子國際標準期刊號1440-1754
語言英式英語
關鍵詞Chinese; galactosaemia; galactose-1-phosphate uridyl transferase
Web of Science 學科類別Pediatrics; PEDIATRICS

上次更新時間 2020-13-09 於 02:14