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PMID: 3949360 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Frequency of glucose-6-phosphate dehydrogenase, pyruvate kinase and hexokinase deficiency in the Saudi population.

Human heredity ·Vol. 36 ·No. 1 ·1986-00-00 ·Pages 45-9

el-Hazmi MA, Al-Swailem AR, Al-Faleh FZ, Warsy AS

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
Carbohydrate Metabolism, Inborn Errors/epidemiology,genetics Demography Female Gene Frequency Glucosephosphate Dehydrogenase Deficiency/epidemiology,genetics Hexokinase/deficiency Humans Male Pyruvate Kinase/deficiency Saudi Arabia Sex Factors
Chemicals
Hexokinase Pyruvate Kinase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
el-Hazmi M A
Al-Swailem A R
Al-Faleh F Z
Warsy A S
Article Info
Journal
Human heredity
Abbr.
Hum Hered
ISSN
0001-5652
Published
1986-00-00
Pages
45-9
Language
English
Region
Switzerland
NLM ID
0200525
Subset
IM
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