title: Frequency of glucose-6-phosphate dehydrogenase, pyruvate kinase and hexokinase deficiency in the Saudi population.
abstract: The frequencies of glucose-6-phosphate dehydrogenase (G-6-PD), pyruvate kinase (PK) and hexokinase (HK) deficiency were determined in different regions of Saudi Arabia. G-6-PD deficiency was found to range from 0.045 to 0.220 for the male and 0.020 to 0.125 for the female population. The highest frequencies were found to exist in the regions which are endemic to malarial parasite and have high frequencies of sickle cell and thalassaemia genes. Partial deficiencies of PK and HK were encountered in each region, however, no case of complete deficiency of these enzymes was identified. Further investigations are in progress to determine the clinical manifestations of enzyme deficiencies in the Saudi population.
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000453:epidemiology* / Q000235:genetics; D003710:Demography; D005260:Female; D005787:Gene Frequency; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology* / Q000235:genetics; D006593:Hexokinase / Q000172:deficiency*; D006801:Humans; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency*; D012529:Saudi Arabia; D012737:Sex Factors
chemical_list: D006593:Hexokinase; D011770:Pyruvate Kinase