PMID- 3949360 OWN - NLM STAT- MEDLINE DCOM- 19860402 LR - 20180215 IS - 0001-5652 (Print) IS - 0001-5652 (Linking) VI - 36 IP - 1 DP - 1986 TI - Frequency of glucose-6-phosphate dehydrogenase, pyruvate kinase and hexokinase deficiency in the Saudi population. PG - 45-9 AB - 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. FAU - el-Hazmi, M A AU - el-Hazmi MA FAU - Al-Swailem, A R AU - Al-Swailem AR FAU - Al-Faleh, F Z AU - Al-Faleh FZ FAU - Warsy, A S AU - Warsy AS LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Switzerland TA - Hum Hered JT - Human heredity JID - 0200525 RN - EC 2.7.1.1 (Hexokinase) RN - EC 2.7.1.40 (Pyruvate Kinase) SB - IM MH - Carbohydrate Metabolism, Inborn Errors/*epidemiology/genetics MH - Demography MH - Female MH - Gene Frequency MH - Glucosephosphate Dehydrogenase Deficiency/*epidemiology/genetics MH - Hexokinase/*deficiency MH - Humans MH - Male MH - Pyruvate Kinase/*deficiency MH - Saudi Arabia MH - Sex Factors EDAT- 1986/01/01 00:00 MHDA- 1986/01/01 00:01 CRDT- 1986/01/01 00:00 PHST- 1986/01/01 00:00 [pubmed] PHST- 1986/01/01 00:01 [medline] PHST- 1986/01/01 00:00 [entrez] AID - 10.1159/000153599 [doi] PST - ppublish SO - Hum Hered. 1986;36(1):45-9. doi: 10.1159/000153599.