Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretically detect G6PD deficiency apart from galactose-1-phosphate uridyltransferase deficiency. In this study, we detected two patients with G6PD deficiency using the quantitative Beutler test which was recently developed in our laboratory. Both patients lacked erythrocyte G6PD activity but exhibited no clinical symptoms. Molecular analysis in patients 1 and 2 revealed two novel missense mutations of C853T causing R285C and A1220C causing K407T, respectively. Molecular rather than enzymatic analysis was required in familial studies to detect and diagnose the carrier state. To date these patients have avoided oxidant stress and haemolytic diatheses have not been induced.


CONCLUSIONS
Our results indicate that the quantitative Beutler test can detect glucose-6-phosphate dehydrogenase deficiency of class 1 and 2 and is therefore useful for early intervention and prevention of haemolytic diathesis in patients with this disorder.
Department of Paediatrics, Osaka City University Graduate School of Medicine, Japan. okano@med.osaka-cu.ac.jp
Y
Y
Okano
A
A
Fujimoto
T
T
Miyagi
A
A
Hirono
S
S
Miwa
S
S
Niihira
H
H
Hirokawa
Y
Y
Yamano
D005693:Galactosemias / Q000517:prevention & control*; D006580:Genetic Carrier Screening; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D015997:Neonatal Screening; D010375:Pedigree