Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient
We report a patient with glutathione synthetase (GS) deficiency who developed acetaminophen-induced hepatotoxicity after a two-day treatment with regular doses of acetaminophen. A nine-month-old female was referred because of intractable metabolic acidosis. She was given acetaminophen at ther...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2007-01-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2512 |
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| _version_ | 1849705708995477504 |
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| author | Ayşegül Tokatli H Serap Kalkanoğlu-Sivri Aysel Yüce Turgay Coşkun |
| author_facet | Ayşegül Tokatli H Serap Kalkanoğlu-Sivri Aysel Yüce Turgay Coşkun |
| author_sort | Ayşegül Tokatli |
| collection | DOAJ |
| description |
We report a patient with glutathione synthetase (GS) deficiency who developed acetaminophen-induced hepatotoxicity after a two-day treatment with regular doses of acetaminophen. A nine-month-old female was referred because of intractable metabolic acidosis. She was given acetaminophen at therapeutic doses over a 48-hour period. She was hospitalized because of confusion and metabolic acidosis. Liver function tests were abnormal with normal bilirubin levels. The urine gas chromatography-mass spectrometry (GC/MS) showed massive excretion of 5-oxoproline. She improved and liver function tests normalized in the next six days, but compensated metabolic acidosis and massive 5-oxoprolinuria persisted. The analysis of GS in erythrocytes revealed 5% of normal enzyme activity, and the patient had 491G > A mutation on both alleles in the GS gene. In this report it can be assumed that patients, even if heterozygous for a mutation of the GS gene, are at risk for acetaminophen toxicity.
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| format | Article |
| id | doaj-art-d014e7b8a7f144f3a45de8a29d66239c |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2007-01-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-d014e7b8a7f144f3a45de8a29d66239c2025-08-20T03:16:23ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212007-01-01491Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patientAyşegül Tokatli0H Serap Kalkanoğlu-SivriAysel YüceTurgay CoşkunUnit of Nutrition and Metabolism, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey. We report a patient with glutathione synthetase (GS) deficiency who developed acetaminophen-induced hepatotoxicity after a two-day treatment with regular doses of acetaminophen. A nine-month-old female was referred because of intractable metabolic acidosis. She was given acetaminophen at therapeutic doses over a 48-hour period. She was hospitalized because of confusion and metabolic acidosis. Liver function tests were abnormal with normal bilirubin levels. The urine gas chromatography-mass spectrometry (GC/MS) showed massive excretion of 5-oxoproline. She improved and liver function tests normalized in the next six days, but compensated metabolic acidosis and massive 5-oxoprolinuria persisted. The analysis of GS in erythrocytes revealed 5% of normal enzyme activity, and the patient had 491G > A mutation on both alleles in the GS gene. In this report it can be assumed that patients, even if heterozygous for a mutation of the GS gene, are at risk for acetaminophen toxicity. https://turkjpediatr.org/article/view/2512 |
| spellingShingle | Ayşegül Tokatli H Serap Kalkanoğlu-Sivri Aysel Yüce Turgay Coşkun Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient The Turkish Journal of Pediatrics |
| title | Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient |
| title_full | Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient |
| title_fullStr | Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient |
| title_full_unstemmed | Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient |
| title_short | Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient |
| title_sort | acetaminophen induced hepatotoxicity in a glutathione synthetase deficient patient |
| url | https://turkjpediatr.org/article/view/2512 |
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