title: Classical galactosaemia in Chinese: A case report and review of disease incidence.
abstract: 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.
authors.affiliation: Department of Pediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong.
authors.forename: K L
authors.initials: KL
authors.lastname: Cheung
authors.forename: N L
authors.initials: NL
authors.lastname: Tang
authors.forename: K J
authors.initials: KJ
authors.lastname: Hsiao
authors.forename: L K
authors.initials: LK
authors.lastname: Law
authors.forename: W
authors.initials: W
authors.lastname: Wong
authors.forename: P C
authors.initials: PC
authors.lastname: Ng
authors.forename: C P
authors.initials: CP
authors.lastname: Pang
authors.forename: D A
authors.initials: DA
authors.lastname: Applegarth
authors.forename: T F
authors.initials: TF
authors.lastname: Fok
authors.forename: N M
authors.initials: NM
authors.lastname: Hjelm
mesh_terms: D000641:Ammonia / Q000097:blood; D044466:Asian People; D002681:China / Q000453:epidemiology; D005260:Female; D005693:Galactosemias / Q000175:diagnosis / Q000208:ethnology* / Q000517:prevention & control; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D015997:Neonatal Screening; D013624:Taiwan / Q000453:epidemiology; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
chemical_list: D000641:Ammonia; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase