title: Glucose-6-phosphate dehydrogenase deficiency in Singapore.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) in man is an X-linked enzyme. The deficiency of this enzyme is one of the most common inherited metabolic disorders in man. In Singapore, three clinical syndromes associated with G6PD deficiency had been described: severe haemolysis in neonates with kernicterus, haemoglobinuria and "viral hepatitis"-like syndrome. The human G6PD monomer consists of 515 amino acids. Only the tetrameric or dimeric forms composed of a single type subunit are catylitically active. The complete amino acid sequence of G6PD had been elucidated in man and various other animals. The region of high homology among the enzymes of various animals is presumably functionally active. Among the Chinese in Singapore, three common molecular variants had been identified: Canton (nt 1376 G --> T), Kaiping (nt 1388 G --> A) and Mediterranean (nt 563 C --> T) in frequencies of 24%, 21% and 10% respectively. In addition, two common mutants (Gaozhou, nt 95 A --> G and Chinese 5, nt 1024 C --> T) have been detected in Singapore Chinese in low frequencies. In Malays, 6 different deficient variants are known in Singapore (3 new, 1 Mahidol, 1 Indonesian and 1 Mediterranean).
authors.affiliation: Department of Paediatrics, National University of Singapore, Singapore.
authors.forename: S H
authors.initials: SH
authors.lastname: Quak
authors.forename: N
authors.initials: N
authors.lastname: Saha
authors.forename: J S
authors.initials: JS
authors.lastname: Tay
mesh_terms: D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology; D006801:Humans; D015994:Incidence; D008297:Male; D012846:Singapore / Q000453:epidemiology