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At least 1,099 records · Page 61Linked to original sources
PubMed1989

Flow cytofluorometric analysis of enzyme reactions based on quenching of fluorescence by the final reaction product: detection of glucose-6-phosphate dehydrogenase deficiency in human erythrocytes.

We developed a method for accurate cytofluorometric analysis of the final reaction product of enzyme reactions in individual cells. Glucose-6-phosphate dehydrogenase (G6PD) activity in human erythrocytes was demonstrated cytochemically, and the amount of final reaction product (formazan) per cell was detected indirectly by quenching of autofluorescence generated by glutaraldehyde fixation. Formazan quenches fluorescence in a dose-dependent manner. The method has been used for detection of G6PD deficiency. Heterozygous and homo(hemi)zygous deficiency could easily be established, even in cases of extreme "Lyonization" where microscopic inspection failed to discriminate between either normal individuals and heterozygously deficient patients or heterozygously and homozygously deficient patients. The principle of quenching of fluorescence by final reaction products of enzymes can be applied to flow cytofluorometric analysis of enzyme activity in individual cells in general.

Dose-Response Relationship, Drug↗
PubMed1991

Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

Biochemical characteristics of one non-deficient fast G6PD variant (GdSingapore) and six different deficient variants (three new, two Mahidol, one each of Indonesian and Mediterranean) were studied among the Malays of Singapore. The GdSingapore variant had normal enzyme activity (82%) and fast electrophoretic mobilities (140% in TEB buffer, 160% in phosphate and 140% in Tris-HCl buffer systems respectively). This variant is further characterized by normal Km for G6P; utilization of analogues (Gal6P, 2dG6P; dAmNADP), heat stability and pH optimum. The other six deficient G6PD variants had normal electrophoretic mobility in TEB buffer with enzyme activities ranging from 1 to 12% of GdB+. The biochemical characteristics identity them to be 2 Mahidol, 1 Indonesian and 1 Mediterranean variants and three new deficient variants.

Electrophoresis↗
PubMed2004

Glucose-6-phosphate dehydrogenase deficiency in India.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red cell enzymopathy in humans and has an X-linked inheritance. It has been reported from India more than 30 years ago and the prevalence varies from 0-27% in different caste, ethnic and linguistic groups. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic non-spherocytic hemolytic anemia. Individuals with G6PD deficiency have a selective advantage against falciparum malaria. Thirteen biochemically characterized variants have been reported from India. At the molecular level, G6PD Mediterranean is the most common deficient variant in the caste groups whereas, G6PD Orissa is more prevalent among the tribal of India. The third common variant seen in India is G6PD Kerala-Kalyan.

Anemia, Hemolytic↗
PubMedDate not supplied

Glucose-6-phosphate dehydrogenase (G6PD) mutations and UDP-glucuronosyltransferase promoter polymorphism among G6PD deficient Kuwaitis.

Screening of 1,080 Kuwaiti male blood donors for glucose-6-phosphate dehydrogenase (G6PD) deficiency revealed this condition in 70 (6.5%) individuals. Mutation analysis of all 70 G6PD deficient samples performed by PCR/RFLP and direct sequencing identified the 563C-->T (Mediterranean) in 72.9%, 202G-->A (A(-)) in 14.3%, 1003G-->A (Chatham) in 7.1%, and 143T-->C (Aures) in 1.4%. In 3 cases (4.3%) mutations remain unknown. Genotyping of all G6PD deficient samples for UDP-glucuronosyltransferase 1 (UDPGT1) gene promoter polymorphism revealed (ta)6/(ta)6 in 38.6%, (ta)7/(ta)7 in 15.7%, (ta)6/(ta)7 in 44.3%, and (ta)7/(ta)8 allele in 1.4% of cases. Thus, 4% of males in the Kuwaiti population have G6PD deficiency coexisting with low activity of the UDPGT1 promoter.

Gene Frequency↗
PubMed1985

Cord blood G-6-PD activity by quantitative enzyme assay and fluorescent spot test in Chinese neonates.

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common X-linked recessive disorder among the Chinese population. Neonatal screening for this condition is important and with necessary precaution, enzyme deficient infants are less likely to develop severe haemolysis and subsequent kernicterus. Screening of G-6-PD deficiency by fluorescent spot test on cord blood samples of 1228 Chinese neonates revealed an incidence of 4.4% in males and 0.35% in females. Simultaneous direct enzyme assay confirmed the sensitivity and specificity of the spot test in the identification of male hemizygotes and female homozygotes. However, the spot test was unsatisfactory in detecting heterozygotes. Even quantitative enzyme assay could detect only 70% of the partially deficient subjects.

Clinical Enzyme Tests↗
PubMed1993

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.

Glucose-6-phosphate dehydrogenase (G6PD) is remarkable for its genetic diversity in humans. Many variants of G6PD have been described with wide ranging levels of enzyme activity and associated clinical symptoms. Fifty-eight different mutations have now been identified and these account for 97 named G6PD variants. The mutations are almost exclusively missense mutations, causing single amino acid substitutions. They are spread throughout the coding region of the gene, although there appears to be a cluster of mutations that cause a more severe clinical phenotype towards the 3' end of the gene. The absence of large deletions, frameshift mutations and nonsense mutations is consistent with the notion that a total lack of G6PD activity would be lethal.

Amino Acid Sequence↗
PubMed2003

Evaluation of glucose-6-phosphate dehydrogenase activity in two different ethnic groups using a kit employing the haemoglobin normalization procedure.

AIM: Correct evaluation of Glucose-6-Phosphate Dehydrogenase (G-6-PD) activity of two ethnic groups using a fully quantitative kit with a simultaneous Hemoglobin Normalization (Hb Normalization) procedure. DESIGN AND METHODS: Two groups of mothers and their healthy full term newborns of Greek (n = 1.166) and Albanian (n = 818) origin were tested for their G-6-PD activity employing a direct normalization protocol. RESULTS: Greek mothers and newborns showed a higher prevalence for G-6-PD deficiency as compared to those of Albanian origin. Males of G-6-PD deficient mothers confirmed the efficacy of the method. CONCLUSION: A fully quantitative G-6-PD kit employing Hb Normalization is essential for the correct classification of G-6-PD activity, both in male and female subjects.

Albania↗
PubMed1976

GD (--) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical, genetic, biochemical aspects.

A deficient G-6PD variant was discovered in 4 males of one family from northwestern Germany. Five generations of this family could be studied. The deficient G-6PD was a new variant, called "Gd (--) Aachen". Its main characteristics are the following: severe enzyme deficiency in erythrocytes (3% of normal), contrasting with an almost normal activity in leukocytes; normal molecular specific activity (i.e., normal ratio enzyme activity/cross-reacting material); slow mobility in starch gel electrophoresis (92-94% of normal); increased Michaelis constant for glucoes-6-phosphate (60-70 muM) and NADP+ (20-25 muM); decreased inhibition constant by NADPH with respect to NADP+ (7 muM); increased inhibition by ATP; normal utilization of the substrate analogues; slightly biphasic pH curve; thermal instability, and normal activation energy of the enzymatic reaction. The relationships between the hematologic disorders (severe and frequent hemolytic crises) and the unfavorable kinetic modifications are discussed.

Adult↗
PubMed1995

Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant.

During the last ten years, molecular biological techniques such as cloning and sequencing and, more recently, polymerase chain reaction (PCR) amplification have led to the identification of the molecular defects responsible for more than fifty glucose-6-phosphate dehydrogenase (G6PD) variants. In this paper, we report the identification of the molecular abnormality underlying the G6PD Ferrara II variant, present in the Po delta area of Northern Italy. Biochemical characterisation shows an enzymatic activity of about 15% of normal (WHO class III), slow electrophoretic mobility, low Km for G6P, high percentage substrate analogue utilisation and a biphasic pH optimum curve. After PCR amplification, non-radioisotopic single-strand conformation polymorphism analysis carried out for the entire coding region has revealed a mobility shift in exon 8. Nucleotide sequencing has demonstrated a missense 844 G > C mutation, causing an Asp > His amino-acid replacement, known as being responsible for G6PD Seattle, G6PD Modena and G6PD Lodi.

Adult↗
PubMed1989

Characterization of a new G6PD variant: G6PD Titusville.

We describe a new glucose-6-phosphate dehydrogenase mutant, G-6-PD Titusville. The propositus is a 7-month-old black male infant with a transient hemolytic episode. The mutant enzyme is characterized by abnormal electrophoretic mobility, thermolability, Km for NADP, abnormal deamino NADP use and a decreased sensitivity to inhibition by NADPH. G-6-PD activity of hemolysate, as measured under optimal in vitro conditions, was not initially decreased, whereas fibroblasts, granulocytes, and platelets showed a markedly decreased level of enzyme activity. These properties identify G6PD Titusville as a unique variant of this X-linked, housekeeping enzyme. We conclude that although the propositus with G6PD Titusville had a transient hemolytic episode, we cannot be certain whether this association was a causative one.

Enzyme Stability↗
PubMedDate not supplied

Correlation between normal glucose-6-phosphate dehydrogenase level and haematological parameters.

The study involved 143 individuals and aimed to correlate normal glucose-6-phosphate dehydrogenase (G6PD) level with haematological parameters. A statistically significant negative correlation was found between G6PD level and haemoglobin, packed cell volume, red blood cell count, mean corpuscular haemoglobin and mean corpuscular volume. A statistically significant positive correlation was found between G6PD level and white blood cell count and reticulocyte count, but no significant correlation was found between G6PD level and mean corpuscular haemoglobin concentration. The negative correlation between G6PD level and haemoglobin suggests that anaemic people have higher G6PD levels than normal individuals. The positive correlation between G6PD level and white blood cell count indicates that white blood cells may play an important role in contributing to G6PD level.

Adolescent↗
PubMed1982

Transient, acquired glucose-6-phosphate dehydrogenase deficiency in Thai children with typhoid fever.

Seventy nine children with typhoid fever were studied, 45 were males and 34 were females. There were 9 out of 45 males patients (20%) who had definite G-6-PD deficiency of whom 3 had acute intravascular hemolysis. The rest of the patients had transient low enzyme activity during the first few weeks of their illness, with reticulocytopenia. Their G-6-PD activities rose up to normal level later in the course of the disease while the reticulocytes were also increased. This study demonstrated that even in normal G-6-PD subjects, typhoid fever can cause transient, acquired low G-6-PD level due to bone marrow suppression. It was suggested from this study that quantitative G-6-PD assay was more useful and sensitive than the screening method and that long term follow up is needed in the case that had unexplained low G-6-PD activity.

Child↗
PubMed1994

Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: additive or synergistic interaction in producing chronic haemolytic anaemia.

We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Segregation of the two defects was documented in both families, who had different molecular abnormalities for both HS and G6PD deficiency. In one family the propositus had a reduced level of spectrin and G6PD Seattle (282Asp-->His). In the other family the propositus had a band 3 abnormality and was heterozygous for G6PD Mediterranean (188Ser-->Phe). From a comparison of clinical and haematological findings in family members with either or both abnormalities we conclude that in one case the two defects exhibited a synergistic effect, resulting in a severe chronic haemolytic anaemia; whereas in the other the association was simply additive.

Anemia, Hemolytic, Congenital↗
PubMed1988

The production of normal and variant human glucose-6-phosphate dehydrogenase in cos cells.

Full-length cDNA coding for human glucose-6-phosphate dehydrogenase (G6PD) was inserted into a eukaryotic expression vector containing the immediate early promoter of cytomegalovirus. When this plasmid was introduced into cos cells by transfection it led to the production of high levels of human G6PD. cDNAs containing mutations found in G6PD-deficient individuals were constructed by in vitro mutagenesis and expressed in the same system. Characterization of the G6PD proteins obtained in this way confirmed the primary structure inferred for the variant enzymes. An enzyme in which lysine-205 had been mutated to threonine was produced and found to have no G6PD activity, proving that this lysine residue is essential for enzyme activity in human G6PD.

Cell Line↗
PubMedDate not supplied

Preliminary experience with the differential pH technique for glucose-6-phosphate dehydrogenase (G6PD) measurement in whole blood: application to an area with high prevalence of thalassaemia and G6PD deficiency.

A new differential pH technique for glucose-6-phosphate dehydrogenase quantitative determination in whole blood has been evaluated. It is a rapid (90 s/analysis), reproducible (C.V. within-run 3.7%; between-run: 2.8%) and accurate method (in comparison with WHO method: r = 0.970). Reference intervals in non-deficient males were evaluated in 167 non-thalassaemics and in 60 beta-thal heterozygotes. The G6PD activity in beta-thalassaemia carriers is higher than in normals; this is particularly true if the activity is expressed in terms of U/g Hb. The phenotypic distribution measured in females is in agreement with that calculated by the Hardy-Weinberg law based on the incidence of the Gd(-) gene in males.

Adolescent↗
PubMedDate not supplied

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism.

During a routine screening for G6PD deficiency in the Province of Matera (Southern Italy), an eleven-year-old boy was brought to our attention who had fever obviously caused by a viral infection, but who also had hepatosplenomegaly and haemoglobinuria. The boy had previously experienced two severe haemolytic attacks. At the age of six months severe haemolysis occurred after the ingestion of cooked fava beans. At the age of seven years, the haemolytic episode was very likely triggered by oral administration of co-trimoxazole. The G6PD activity level in erythrocyte lysate was clearly defective (25% of normal). The electrophoretic mobility of G6PD was 110% of normal. These data together with those obtained from biochemical and molecular characterisation allowed the variant to be identified as G6PD A(-). This is the first report of an association between the African type G6PD deficiency variant and favism.

Adolescent↗
PubMed2005

G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary enzymopathy among Southeast Asians. We studied G6PD mutations in 108 migrant Cambodian laborers in Chanthaburi province and cord blood samples from 107 Cambodian newborns at Buriram Hospital. Thirty-one (26.1%) of 119 Cambodian males and three of 96 (3.1%) females were G6PD deficient and were assayed for G6PD mutations. G6PD Viangchan (871G>A) was identified in most G6PD-deficient Cambodians (28 of 34; 82.4%); G6PD Union (1360C>T) and G6PD Coimbra (592C>T) was found in one case each. We concluded that G6PD Viangchan (871G>A) was the most common mutation among Cambodians. This finding is similar to G6PD-deficient Thais and Laotians, suggesting a common ancestry of people from these three countries.

Cambodia↗
PubMed1989

Two point mutations are responsible for G6PD polymorphism in Sardinia.

The human X-linked gene encoding glucose 6-phosphate dehydrogenase (G6PD) is highly polymorphic; more than 300 G6PD variants have been identified. G6PD deficiency in different geographical areas appears to have arisen through independent mutational events, but within the same population it may also be heterogeneous. One example is the island of Sardinia, where careful clinical and biochemical studies have identified four different G6PD variants. We cloned and sequenced the four G6PD variants from Sardinia and found that only two mutations are responsible for G6PD deficiency in this area: one mutation is the cause of the G6PD Seattle-like phenotype, a milder form of G6PD deficiency; the other mutation is responsible for all forms of very severe G6PD deficiency in Sardinia and, possibly, in the Mediterranean.

Cloning, Molecular↗