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Classical galactosaemia in Chinese: A case report and review of disease incidence
Author(s) -
Cheung KL,
Tang NLS,
Hsiao KJ,
Law LK,
Wong W,
Ng PC,
Pang CP,
Applegarth DA,
Fok TF,
Hjelm NM
Publication year - 1999
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.1999.00373.x
Subject(s) - medicine , galactosemia , lethargy , jaundice , incidence (geometry) , sibling , pediatrics , population , disease , ethnic group , mutation , genetics , gene , galactose , environmental health , psychology , developmental psychology , biochemistry , chemistry , physics , sociology , biology , anthropology , optics
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.