The Turkish Journal of Pediatrics 2007 , Vol 49 , Num 1
Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient
1Units of Nutrition and Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
2Units of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey
Tokatlı A, Kalkanoğlu-Sivri HS, Yüce A, Coşkun T. Acetaminopheninduced hepatotoxicity in a glutathione synthetase-deficient patient. Turk J Pediatr 2007; 49: 75-76.

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. Keywords : acetaminophen, hepatotoxicity, glutathione synthetase deficiency

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