NBAS mutations cause acute liver failure: when acetaminophen is not a culprit

Area of Science:

• Pediatric Hepatology
• Medical Genetics
• Toxicology

Background:

• Pediatric acute liver failure (PALF) is uncommon with therapeutic acetaminophen (APAP) doses.
• Viral infections and metabolic disorders are more frequent causes of PALF.
• APAP is often mistakenly implicated in acute liver damage during febrile illnesses.

Observation:

• An 11-month-old infant developed acute liver failure after 10 days of therapeutic APAP.
• The child experienced recurrent liver damage episodes despite APAP avoidance.
• Genetic analysis revealed compound heterozygous pathogenic mutations in the NBAS gene.

Findings:

• NBAS gene mutations are associated with recurrent acute liver failure in children.
• Fever triggers and exacerbates liver failure episodes in NBAS mutation patients.
• APAP is a supportive treatment, not the cause, in these cases.

Implications:

• Clinicians should investigate alternative etiologies for PALF, especially with recurrent episodes.
• Consider NBAS gene mutations in unexplained recurrent acute liver failure.
• Initiate supportive and antipyretic care promptly while seeking specialist consultation.