Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a recessive X-linked trait, is the most common enzyme deficiency in the world. The most devastating clinical consequence of this deficit is severe neonatal jaundice, which results in sensorineural deficit, and severe haemolytic anemia. However, patients may be asymptomatic. The most common clinical sign is hyperbilirubinemia (h.), that is also related to Gilbert's syndrome, a condition associated with the promoter polymorphism of the UDP-glucuronosyltransferase 1 (UGT1A1) gene. The aim of this study was to underline (as is usually done by DNA molecular analysis) to detect and to clarify the genetic deficiency that is the reason of the disorder in question. In this study, different techniques were applied to analyse a family of four individuals presenting with hyperbilirubinemia: bilirubinic dosage, electrophoresis and enzymatic activity dosage of G6PD; molecular analysis of the UGT1A promoter to detect a thymine-adenine (TA) insertion, that causes the [A(TA)7TAA] mutation. The results showed that in certain cases, the presence of hyperbilirubinemia is not only associated with G6PD deficiency, but may be caused by the co-presence of a mutation in the UGTA1 promoter related to Gilbert's syndrome. As being affected by these two conditions predisposes to adverse effects towards certain drug treatments, it is advisable to study the UGTA1 gene before prescribing drugs for specific antineoplastic or retroviral tratment. We emphasize that investigating both the UGT1A gene and G6PD activity is the most reliable way to make a correct differential diagnosis.
| Original language | English |
|---|---|
| Pages (from-to) | 1521-1525 |
| Number of pages | 5 |
| Journal | Molecular Medicine Reports |
| Volume | 5 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2012 |
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Keywords
- Atazanavir
- Gilbert's syndrome
- Glucose-6-phosphate dehydrogenase deficiency
- Hemolysis
- Hyperbilirubinemia
- Irinotecan
ASJC Scopus subject areas
- Biochemistry
- Cancer Research
- Genetics
- Molecular Biology
- Molecular Medicine
- Oncology
Cite this
Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome. / Dell'Edera, Domenico; Epifania, Annunziata Anna; Tinelli, Andrea; Leo, Manuela; Novelli, Antonio; Di Trani, Antonio; Barrano, Giuseppe; Bertoli, Marta; Mazzone, Eleonora; Benedetto, Michele; Simona, Damian; Malvasi, Antonio.
In: Molecular Medicine Reports, Vol. 5, No. 6, 06.2012, p. 1521-1525.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome
AU - Dell'Edera, Domenico
AU - Epifania, Annunziata Anna
AU - Tinelli, Andrea
AU - Leo, Manuela
AU - Novelli, Antonio
AU - Di Trani, Antonio
AU - Barrano, Giuseppe
AU - Bertoli, Marta
AU - Mazzone, Eleonora
AU - Benedetto, Michele
AU - Simona, Damian
AU - Malvasi, Antonio
PY - 2012/6
Y1 - 2012/6
N2 - Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a recessive X-linked trait, is the most common enzyme deficiency in the world. The most devastating clinical consequence of this deficit is severe neonatal jaundice, which results in sensorineural deficit, and severe haemolytic anemia. However, patients may be asymptomatic. The most common clinical sign is hyperbilirubinemia (h.), that is also related to Gilbert's syndrome, a condition associated with the promoter polymorphism of the UDP-glucuronosyltransferase 1 (UGT1A1) gene. The aim of this study was to underline (as is usually done by DNA molecular analysis) to detect and to clarify the genetic deficiency that is the reason of the disorder in question. In this study, different techniques were applied to analyse a family of four individuals presenting with hyperbilirubinemia: bilirubinic dosage, electrophoresis and enzymatic activity dosage of G6PD; molecular analysis of the UGT1A promoter to detect a thymine-adenine (TA) insertion, that causes the [A(TA)7TAA] mutation. The results showed that in certain cases, the presence of hyperbilirubinemia is not only associated with G6PD deficiency, but may be caused by the co-presence of a mutation in the UGTA1 promoter related to Gilbert's syndrome. As being affected by these two conditions predisposes to adverse effects towards certain drug treatments, it is advisable to study the UGTA1 gene before prescribing drugs for specific antineoplastic or retroviral tratment. We emphasize that investigating both the UGT1A gene and G6PD activity is the most reliable way to make a correct differential diagnosis.
AB - Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a recessive X-linked trait, is the most common enzyme deficiency in the world. The most devastating clinical consequence of this deficit is severe neonatal jaundice, which results in sensorineural deficit, and severe haemolytic anemia. However, patients may be asymptomatic. The most common clinical sign is hyperbilirubinemia (h.), that is also related to Gilbert's syndrome, a condition associated with the promoter polymorphism of the UDP-glucuronosyltransferase 1 (UGT1A1) gene. The aim of this study was to underline (as is usually done by DNA molecular analysis) to detect and to clarify the genetic deficiency that is the reason of the disorder in question. In this study, different techniques were applied to analyse a family of four individuals presenting with hyperbilirubinemia: bilirubinic dosage, electrophoresis and enzymatic activity dosage of G6PD; molecular analysis of the UGT1A promoter to detect a thymine-adenine (TA) insertion, that causes the [A(TA)7TAA] mutation. The results showed that in certain cases, the presence of hyperbilirubinemia is not only associated with G6PD deficiency, but may be caused by the co-presence of a mutation in the UGTA1 promoter related to Gilbert's syndrome. As being affected by these two conditions predisposes to adverse effects towards certain drug treatments, it is advisable to study the UGTA1 gene before prescribing drugs for specific antineoplastic or retroviral tratment. We emphasize that investigating both the UGT1A gene and G6PD activity is the most reliable way to make a correct differential diagnosis.
KW - Atazanavir
KW - Gilbert's syndrome
KW - Glucose-6-phosphate dehydrogenase deficiency
KW - Hemolysis
KW - Hyperbilirubinemia
KW - Irinotecan
UR - http://www.scopus.com/inward/record.url?scp=84860776330&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84860776330&partnerID=8YFLogxK
U2 - 10.3892/mmr.2012.830
DO - 10.3892/mmr.2012.830
M3 - Article
C2 - 22407023
AN - SCOPUS:84860776330
VL - 5
SP - 1521
EP - 1525
JO - Molecular Medicine Reports
JF - Molecular Medicine Reports
SN - 1791-2997
IS - 6
ER -