Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:1.1.1.49 (glucose-6-phosphate dehydrogenase)
7,794 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The urinary D-glucaric acid of 86 full-term newborns was determined on the 10th day of life. Of these, 28 had jaundice due to glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, 24 jaundice of unknown etiology and 18 Rhesus incompatibility. Practically all the cases of the first two groups had a greatly decreased D-glucaric acid excretion whereas this was not a constant finding in the 18 cases with Rh-incompatibility. Normal values were found in 16 healthy controls of the same age. These findings suggest that in severe neonatal jaundice due to G-6-PD deficiency and in jaundice of unknown etiology, there is a greatly reduced excretion of endogenously formed D-glucaric acid, due probably to decreased activity of liver enzymes involved in the metabolism of glucuronic acid. This defect probably contributes to the unconjugated hyperbilirubinemia in these newborns.
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PMID:D-Glucaric acid excretion in newborns with severe jaundice of unknown etiology and due to glucose-6-phosphate dehydrogenase deficiency in Greece. 80 41

A new variant of glucose-6-phosphate dehydrogenase (G-6-PD) has been discovered in Northern Italy, in the district of Ferrara. This variant is characterized by high decrease of red blood cell enzyme activity (less than 5% of normal), high affinity for G-6-P and NADP, increased utilization of deamino-NADP and 2-deoxy-G-6-P, and faster electrophoretic mobility in the buffer systems commonly used for the classification of the G-6-PD variants. The new G-6-PD type was never associated with clinical manifestations in any cases except neonatal jaundice in some of the newborns with this enzyme deficiency. The frequency of the new variant in the Ferrara district indicates that it has probably appeared in this area by mutation some centuries ago. It is suggested that this variant should be named G-6-PD Ferrara.
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PMID:Glucose-6-phosphate dehydrogenase Ferrara. A new variant of g-6-PD identified in Northern Italy. 82 56

Of 50 jaundiced neonatal patients studied at the Port Moresby General Hospital, 11 (22%) were found to be glucose-6-phosphate dehydrogenase-deficient. No apparent exogenous precipitating causes for the jaundice were noted. Serum bilirubin levels exceeded 20 mg/100 ml in seven of these glucose-6-phosphate dehydrogenase-deficient infants, and exchange transfusions were required for three subjects. Glucose-6-phosphate dehydrogenase deficiency must be considered in the differential diagnosis of neonatal jaundice in Papua New Guinea.
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PMID:Neonatal jaundice and glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea. 116 Jul 3

A longitudinal study of red cell enzyme activity in newborn infants of low birth weight has been conducted over the first 2 months of life. The enzymes investigated are acetylcholinesterase (EC 3.1.3.7), an integral part of the red cell membrane and subnormal in ABO hemolytic disease of the newborn; and glucose-6-phosphate dehydrogenase (EC 1.1.1.49), an intracellularly-located, sex-linked enzyme, implicated in neonatal jaundice and of significance in drug-induced hemolytic anemias. Acetylcholinesterase activity, which is lower in normal full-term infants and in low birth weight infants than in adults, was further diminished during the initial weeks of life of the infants of low birth weight and the higher levels of activity, characteristic of adult red cells, had not appeared by 2 months of age. By contrast, red cell glucose-6-phosphate dehydrogenase activity, which is higher in full-term newborn infants and in infants of low birth weight than in adults, did not diminish as a function of age and the lower adult levels were not discernible by 2 months of life.
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PMID:A longitudinal study of red cell enzymes in infants of low birth weight. 117 94

Researchers compared data on 333 newborns with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency at 5 public and 5 private hospitals in Taiwan with data on 653 birth date, sex, and delivery hospital matched newborns to examine the peak serum bilirubin (PSB) level and incidence of neonatal jaundice of both G-6-PD deficient and G-6-PD normal newborns. They also wanted to determine whether an association exists between G-6-PD activity level and incidence of neonatal jaundice and associations between G-6-PD deficiency and other likely risk factors of neonatal jaundice. A significant association between G-6-PD deficiency and neonatal jaundice existed among male neonates but not female neonates. Male neonates had a considerably higher incidence of neonatal jaundice than did female neonates (11.6% vs. 6.2%). There was a significant inverse dose-response relationship between G-6-PD activity and neonatal jaundice among the male neonates (p.01). For example, the relative risk was 1.78 for 20.1-29.9 relative intensity, 2.01 for 15.1-20, 2.61 for 10.1-15, and 4.07 for 10. Maternal hepatitis B surface antigen (HBsAg) carrier status and hypoxia/asphyxia significantly increased the risk for G-6-PD deficiency in male neonates (p.05). The multiple regression analysis indicated a significant effect of G-6-PD deficiency on the PSB level and the incidence rate of severe neonatal jaundice. There was a similar significant interaction between G-6-PD deficiency and maternal HBsAg carrier status.
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PMID:Association between glucose-6-phosphate dehydrogenase deficiency and neonatal jaundice: interaction with multiple risk factors. 146 58

A 4-year experience of neonatal jaundice, from 1982-1985, in Toa Payoh Hospital, Singapore was reported previously. The second 4-year experience (1986-1989) of neonatal jaundice is reported. The Department had a more liberal policy in the management of milder cases of neonatal jaundice since 1986, after acquisition of more phototherapy units. It is the purpose of this paper to examine the change in pattern of neonatal jaundice in the same department over these 2 study periods and a comparison is made. The reported frequency of neonatal jaundice in these 2 study periods rose from 7.9% to 10% of all babies in this hospital. Babies who have some form of treatment such as phototherapy are considered as cases of neonatal jaundice. However, the incidence of hyperbilirubinaemia (defined as serum bilirubin level of 255 umol/L or 15 mg/dl or greater) fell from 3.23% to 2.11% of all livebirths in these 2 study periods. ABO Incompatibility, glucose-6-phosphate dehydrogenase (G6PD) deficiency and low birth weights (LBW) remain as the common aetiological factors of neonatal jaundice. The indications of exchange blood transfusions have changed considerably. There were less exchange blood transfusions for severe neonatal jaundice due to G6PD deficiency. However, more LBW babies underwent exchange blood transfusion. No case of kernicterus was reported for more than 10 years.
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PMID:Neonatal jaundice. A second 4-year experience in Toa Payoh Hospital (1986-1989). 181 31

In a study on a group of 186 newborn babies presenting with jaundice, erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency was detected in 95 (51%) of the patients. The incidence of severe hyperbilirubinaemia appeared to be much greater in G6PD-deficient infants (46%) than in infants who did not have the red cell defect (15%). No change was found in this association when ABO incompatibility was excluded. Phototherapy did not reduce the need for exchange transfusion, which was necessary in 27 babies. Eight babies developed kernicterus and one died. Early detection of G6PD deficiency and close surveillance of the affected newborns may be important in reducing the risk of severe neonatal jaundice and kernicterus associated with G6PD deficiency in Basrah.
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PMID:Neonatal jaundice and glucose-6-phosphate dehydrogenase deficiency in Basrah. 244 50

The distribution of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in ethnic minorities in the Netherlands was studied in a random sample of 668 healthy pregnant women and 754 healthy full term neonates. The overall prevalence of G-6-PD deficiency was 6.6% in males and 5.2% in females. Highest frequencies were found in sub-Saharan blacks. The hematological data in severe deficient women of African descent suggest slight hemolysis in the first trimester of pregnancy. Mean hemoglobin concentrations in pregnant women and neonates of African descent were lower as compared to hemoglobin concentrations in persons of Asian or Mediterranean origin. G-6-PD deficiency was found to be the only cause of neonatal jaundice in 6% of the non-Caucasian neonates who underwent exchange transfusion for severe neonatal hyperbilirubinaemia. Mean bilirubin in cordblood, however, was not found to be significantly higher in severe deficient neonates of African, Asian and Mediterranean descent.
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PMID:Glucose-6-phosphate dehydrogenase deficiency in ethnic minorities in The Netherlands. 322 52

Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is a common genetic abnormality affecting an estimated 400 million people worldwide. Clinical and biochemical analyses have identified many variants exhibiting a range of phenotypes, which have been well characterized from the hematological point of view. However, until now, their precise molecular basis has remained unknown. We have cloned and sequenced seven mutant G6PD alleles. In the nondeficient polymorphic African variant G6PD A we have found a single point mutation. The other six mutants investigated were all associated with enzyme deficiency. In one of the commonest, G6PD Mediterranean, which is associated with favism among other clinical manifestations, a single amino acid replacement was found (serine----phenylalanine): it must be responsible for the decreased stability and the reduced catalytic efficiency of this enzyme. Single point mutations were also found in G6PD Metaponto (Southern Italy) and in G6PD Ilesha (Nigeria), which are asymptomatic, and in G6PD Chatham, which was observed in an Indian boy with neonatal jaundice. In G6PD "Matera," which is now known to be the same as G6PD A-, two separate point mutations were found, one of which is the same as in G6PD A. In G6PD Santiago, a de novo mutation (glycine----arginine) is associated with severe chronic hemolytic anemia. The mutations observed show a striking predominance of C----T transitions, with CG doublets involved in four of seven cases. Thus, diverse point mutations may account largely for the phenotypic heterogeneity of G6PD deficiency.
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PMID:Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. 339 36

A prospective study of 1238 full-term Chinese newborn infants was conducted to determine the incidence of neonatal jaundice and associated factors. A significantly more severe degree of hyperbilirubinaemia was present in infants whose ABO blood group was incompatible with that of their mothers and those who were deficient in the enzyme glucose-6-phosphate dehydrogenase (G6PD). Among the remainder, clinical jaundice was present in 87% and 23.9% had a peak serum bilirubin (SB) concentration greater than 204 mumol/l. Factors that were found to have an association with a higher peak SB concentration included: male infants; elder siblings who had a history of neonatal jaundice; and breast-fed infants with or without supplementation with formula feed. Factors that were found to have no significant association with the peak SB concentration were: gestational age; birthweight; the mode of delivery of the infants; maternal consumption of Chinese herbs and syntocinon induction or augmentation of labour.
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PMID:Neonatal jaundice: its prevalence in Chinese babies and associating factors. 376 89


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