Acute bilirubin encephalopathy
Synonyms: ABE | Acute kernicterus
A rare neurologic disease characterized by lethargy hypotonia poor feeding opisthotonus and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus sub-thalamic nuclei and other brain regions resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever apnea seizures and coma. Especially respiratory failure or refractory seizures may lead to a fatal outcome.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Acute bilirubin encephalopathy?
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Advocacy Organizations
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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