Glucose-6-phosphate dehydrogenase deficiency: correlation between the genotype, biochemistry and phenotype.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic enzyme defect present in many people from African, Middle Eastern, Mediterranean and Asian countries. Individuals with the enzyme deficiency may remain asymptomatic, develop an acute haemolytic crises to infections or Fava beans, neonatal jaundice or chronic non-spherocytic haemolytic anaemia. Electrophoretic mobility may be fast, slow or normal. Over 160 mutations have been described, mostly due to single amino acid substitution. Although correlation of the genotype and biochemistry with the clinical phenotype of G6PD deficient individuals remains somewhat variable, there is better correlation among individuals presenting with chronic non-spherocytic haemolytic anaemia, which is related to the NADP structure of the enzyme.
Chan
Daisy K L
DK
Department of Neonatal & Developmental Medicine, Singapore General Hospital, Outram Road,Singapore 169608. daisy.chan.k.l@sgh.com.sg
D005838:Genotype; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype