Recurrent Acute Liver Failure due to NBAS Deficiency

A recent case report (V Cardenas et al. J Pediatr 2017; 186: 179-82) describes recurrent acute liver failure (ALF) in the setting of neuroblastoma amplified sequence deficiency (NBAS).

The case report describes a 2 yo who developed very elevated aminotransferases (ALT >14,000), hypoglycemia, severe coagulopathy (INR 4.5)), lactic acidosis (6.5 mmol/L) and hyperammonemia (282 μmol/L) following a febrile illness.

Genetic testing uncovered 2 variants in the NBAS gene consistent with NBAS deficiency.

Key points:

  • Mutations in NBAS “have been identified as a molecular cause of ALF in children, leading to recurrent episodes of ALF after a febrile illness.”
  • NBAS deficiency should be part of the differential diagnosis of ALF in children
  • In a report of 14 patients with this disorder (J Inherit Metab Dis 2016; 39: 3-16), liver function normalized in between episodes.  Typically, episodes were most severe at younger ages.  ALF “may be prevented through early and effective antipyretic therapy and intravenous application of glucose and lipids.”

My take: NBAS deficiency, along with hemophagocytic lymphohistiocytosis (HLH), infections, and Kawasaki’s disease, needs to be considered in children with severe liver dysfunction associated with fevers.

1 thought on “Recurrent Acute Liver Failure due to NBAS Deficiency

  1. I lost two kids with this mutation.
    The first at 3.5 yrs and second at 15 mounths .
    Antipyrretic and gluxose did not help at alla and both ended up with cerebral oedema.
    A terrible syndrom that affected our lives for good.

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