Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient.

Abstract

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.

• Authors: Ayşegül Tokatli, H Serap Kalkanoğlu-Sivri, Aysel Yüce, Turgay Coşkun
• Journal: The Turkish journal of pediatrics (Turk J Pediatr) Vol. 49 Issue 1 Pg. 75-6 ( 2007) ISSN: 0041-4301 [Print] Turkey
• PMID: 17479648 (Publication Type: Case Reports, Journal Article)

Chemical References

• Analgesics, Non-Narcotic
• Acetaminophen
• Glutathione Synthase

Topics

• Acetaminophen (adverse effects)
• Acidosis (blood, chemically induced, physiopathology)
• Analgesics, Non-Narcotic (adverse effects)
• Chemical and Drug Induced Liver Injury (physiopathology)
• Female
• Glutathione Synthase (blood, deficiency)
• Humans
• Infant
• Liver Function Tests