Classical galactosaemia in Chinese: A case report and review of disease incidence.
作者信息
Cheung K L, Tang Nls, Hsiao K J, Law L K, Wong W, Ng P C, Pang C P, Applegarth D A, Fok T F, Hjelm N M
机构信息
Departments of Pediatrics and,Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong,,Institutes of Genetics, National Yang-Ming University, Taiwan, and Department of Medical Research and Education, Veterans General Hospital - Taipei, Taiwan,,Department of Pediatrics, British Columbia's Children's Hospital, Vancouver, BC, Canada.
出版信息
J Paediatr Child Health. 1999 Aug;35(4):399-400. doi: 10.1046/j.1440-1754.1999.00373.x.
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.
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