- General Drug Summary
- Structure
- Summary In Neonatal Jaundice
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2 record(s) for Diphosphate Effective in Inducing Remission in Neonatal Jaundice.
- PMID
- Drug Name
- Efficacy
- Evidence
- 24783083
- Diphosphate
- Effective in Inducing Remission
- Clinical Trial
- Summary
- The promoter and coding regions of UGT1A1 of genomic DNA were amplified by PCR isolated from leukocytes.
- Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. Journal of clinical and diagnostic research : JCDR, 2014 Mar [Go to PubMed]
- The pathogenesis of neonatal hyperbilirubinemia hasn't been completely defined in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient newborns. The aim of this study was to detect the relationship between Gilbert's syndrome and hyperbilirubinemia in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates.
This case-control study was conducted in Amirkola pediatrics teaching hospital, Babol, Iran. A total number of one hundred four infants were included in the study (51 infants with neonatal jaundice and Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted to phototherapy or transfusion were selected as the case group and 53 infants with Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted for other reasons than jaundice were selected as the control group). Exclusion criteria were ABO or Rh incompatibility or other reasons that made Coombs test positive, sepsis, hepatosplenomegaly, metabolic diseases, medical treatment and phototherapy. The promoter and coding regions of Uridine diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) of genomic DNA were amplified by polymerase chain reaction (PCR) isolated from leukocytes. We used chi-square test and t-test to compare cases and controls.
Distribution of Gilbert genome was not significantly different between the two groups; among cases, 33.3% were homozygote, 35.3% heterozygote, and 31.4% normal. Among controls, 22.6% were homozygote, 34% heterozygote, and 43.4% normal (p-value=xxx). Hyperbilirubinemia family history didn't differ significantly between these two groups.
We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert's syndrome (promoter polymorphism) and hyperbilirubinemia.
- 16257926
- Diphosphate
- Effective in Inducing Remission
- Review
- Summary
- A mutation in the promoter region of the bilirubin uridine diphosphate glucuronosyl transferase gene (UGT1A1*28) is the most common cause of GS.
- The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis. Pediatric research, 2005 Nov [Go to PubMed]
- Hypertrophic pyloric stenosis (HPS) may be accompanied by jaundice, a condition referred to as the icteropyloric syndrome (IPS). It has long been suspected that the etiology of IPS is an early manifestation of Gilbert's syndrome (GS). Clinical features common to both GS and IPS include jaundice precipitated by fasting and improved with feeding. Prevalence of jaundice in HPS is similar to that of clinically apparent GS in the general population. Discovery of a mutation in the promoter region of the bilirubin uridine diphosphate glucuronosyl transferase gene (UGT1A1*28) as the most common cause of GS has provided a tool to determine the role of GS in IPS. The aims of this study were to determine 1) the prevalence of IPS in a large group of infants with HPS, 2) whether disease severity contributed to the manifestation of IPS, and 3) whether GS played a role in IPS. Radioactive PCR and sequencing were used to determine the presence of UGT1A1*28 mutations. We determined a prevalence of IPS of 14.3% in HPS. Infant with IPS had significantly higher levels of alkalosis than infants with HPS alone. GS mutations were 4-fold higher in IPS (43.8%) than HPS (10.7%). In conclusion, the frequency of jaundice in HPS is similar to that of clinically apparent GS in the general population. Manifestation of IPS results from a more severe degree of metabolic disturbance and the presence of GS mutations.
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1 record(s) for Diphosphate Effective in Maintaining Remission in Neonatal Jaundice.
- PMID
- Drug Name
- Efficacy
- Evidence
- 20975617
- Diphosphate
- Effective in Maintaining Remission
- Clinical Trial
- Summary
- Neonates who carry the nucleotide 211 GA or AA variation within coding region in UGT1A1 gene are more susceptible to develop early-onset neonatal breastfeeding jaundice.
- 211 G to a variation of UDP-glucuronosyl transferase 1A1 gene and neonatal breastfeeding jaundice. Pediatric research, 2011 Feb [Go to PubMed]
- Breastfeeding jaundice is a common problem in neonates who were exclusively breastfed, but its pathogenesis is still unclear. The uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) gene polymorphism was shown to contribute to the development of neonatal hyperbilirubinemia. We hypothesize that the variation of UGT1A1 gene may contribute to neonatal breastfeeding jaundice. We prospectively enrolled 688 near-term and term infants who were exclusively breastfed (BF group) or were supplemented by infant formula partially (SF group) before onset of hyperbilirubinemia. Genotyping of the promoter and exon1 of UGT1A1 was performed in all neonates. Neonates in BF group had a significantly higher maximal body weight loss ratio, peak bilirubin level, and a greater incidence of hyperbilirubinemia than those in SF group. Neonates with nucleotide 211 GA or AA variation in UGT1A1 genotypes had higher peak serum bilirubin levels and higher incidence of hyperbilirubinemia than WTs (GG). This phenomenon was only seen inBF group but not in SF group when subset analysis was performed. This suggests that neonates who carry the nucleotide 211 GA or AA variation within coding region in UGT1A1 gene are more susceptible to develop early-onset neonatal breastfeeding jaundice.
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1 record(s) for Diphosphate NA in Neonatal Jaundice.
- PMID
- Drug Name
- Efficacy
- Evidence
- 1573516
- Diphosphate
- NA
- Clinical Trial
- Summary
- Hepatic bilirubin uridine diphosphate glucuronosyltransferase activity was nil, suggesting a possible delayed maturation of the enzyme. prolonged jaundice associated with congenital hypothyroidism may be due to a delayed maturation of the hepatic glucuronidation of bilirubin.
- Bilirubin uridine diphosphate glucuronosyltransferase hepatic activity in jaundice associated with congenital hypothyroidism. Journal of pediatric gastroenterology and nutritio, 1992 Jan [Go to PubMed]
- Hepatic bilirubin uridine diphosphate glucuronosyltransferase activity was assayed in an infant with prolonged jaundice and congenital hypothyroidism before thyroid therapy. This activity was nil, suggesting a possible delayed maturation of the enzyme. Although further studies will be necessary to confirm this hypothesis, prolonged jaundice associated with congenital hypothyroidism may be due to a delayed maturation of the hepatic glucuronidation of bilirubin.
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3 record(s) for Diphosphate Adverse Event in Neonatal Jaundice.
- PMID
- Drug Name
- Efficacy
- Evidence
- 16210851
- Diphosphate
- Adverse Event
- Clinical Trial
- Summary
- Defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene would causes Gilbert syndrome.
- Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population. Biology of the neonate, 2006 [Go to PubMed]
- Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice.
The objective was to determine the frequencies of the following mutations in the UGT1A1 gene: A(TA)7TAA (the most common cause of Gilbert syndrome in Caucasians), G71R (more common in the Japanese and Taiwanese population), and G493R (described in a homozygous Malay woman with Crigler-Najjar syndrome type 2) in a group of Malaysian babies with hyperbilirubinemia and a group of normal controls.
The GeneScan fragment analysis was used to detect the A(TA)7TAA variant. Mutation screening of both G71R and G493R was performed using denaturing high performance liquid chromatography.
Fourteen out of fifty-five neonates with hyperbilirubinemia (25%) carried the A(TA)7TAA mutation (10 heterozygous, 4 homozygous). Seven out of fifty controls (14%) carried this mutation (6 heterozygous, 1 homozygous). The allelic frequencies for hyperbilirubinemia and control patients were 16 and 8%, respectively (p=0.20). Heterozygosity for the G71R mutation was almost equal among both groups (5.5% for hyperbilirubinemia patients and 6.0% for controls; p=0.61). One subject (1.8%) in the hyperbilirubinemia group and none of the controls were heterozygous for the G493R mutation (p=0.476).
The A(TA)7TAA seems more common than the G71R and G493R mutations in the Malaysian population.
- 20022574
- Diphosphate
- Adverse Event
- Review
- Summary
- Uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1),G6PD and SLCO1B1 may interact with each other and/or environmental contributors to produce significant hyperbilirubinemia.
- Exploring the genetic architecture of neonatal hyperbilirubinemia. neonatal medicine, 2010 Jun [Go to PubMed]
- The potential for genetic variation to modulate neonatal hyperbilirubinemia risk is increasingly being recognized. In particular, polymorphisms across three genes involved in bilirubin production and metabolism [glucose-6-phosphate dehydrogenase (G6PD), uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1), and solute carrier organic anion transporter polypeptide 1B1 (SLCO1B1)] may interact with each other and/or environmental contributors to produce significant hyperbilirubinemia. Variant gene co-expression including compound and synergistic heterozygosity enhances hyperbilirubinemia risk, contributing to the etiologic heterogeneity and complex nature of neonatal jaundice.
- 19325249
- Diphosphate
- Adverse Event
- Review
- Summary
- The uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) enzyme is responsible for conjugation of the bilirubin in the liver as well as for drug metabolism. Some of the polymorphisms have been associated with an increased risk of Neonatal hyperbilirubinemia which may explain the increased incidence of jaundice in an Asian population as well as exaggerated irinotecan-induced leukopenia.
- UGT1A1 haplotype mutation among Asians in Singapore. Neonatology, 2009 [Go to PubMed]
- The uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) enzyme is responsible for conjugation of the bilirubin in the liver as well as for drug metabolism. Some of the polymorphisms have been associated with an increased risk of neonatal hyperbilirubinemia which may explain the increased incidence of jaundice in an Asian population as well as exaggerated irinotecan-induced leukopenia.
The local Asian incidence of hypomorphic haplotypes, defined as gene mutations known to have a reduced function, has not been described. Clinical correlation between the mutations and the need for phototherapy for hyperbilirubinemia was carried out.
A cohort of 241 consecutive term infants delivered in the National University Hospital, Singapore, was recruited with parental consent. Cord blood was collected, and the promoter and coding regions of the UGT1A1 gene were sequenced.
Six known haplotypes and 2 novel haplotypes were identified: 1 wild type, 5 with reduced function, while the 2 novel ones were predicted to have decreased function. The frequency of these hypomorphic haplotypes was high. Among the 241 infants screened, 35% had 1 hypomorphic haplotype and 12% had 2 hypomorphic haplotypes. The frequency was also different among ethnic groups, with 48% Chinese, 64% Indian and 31% Malay infants having at least 1 hypomorphic haplotype (chi(2) test, p < 0.05). There was a trend seen between the number of G71R mutations and the need for phototherapy (chi2 test for trend, p < 0.05).
The local Asian incidence of hypomorphic haplotypes was high and there was a trend between the number of G71R mutations and the need for phototherapy. The G71R mutation may account for the increased incidence of neonatal jaundice seen in Asian populations.