Classical galactosaemia in Chinese: A case report and review of disease incidence
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AbstractWe 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.
All Author(s) ListCheung KL, Tang NLS, Hsiao KJ, Law LK, Wong W, Ng PC, Pang CP, Applegarth DA, Fok TF, Hjelm NM
Journal nameJournal of Paediatrics and Child Health
Volume Number35
Issue Number4
Pages399 - 400
LanguagesEnglish-United Kingdom
KeywordsChinese; galactosaemia; galactose-1-phosphate uridyl transferase
Web of Science Subject CategoriesPediatrics; PEDIATRICS

Last updated on 2020-13-10 at 02:21