Acute bilirubin encephalopathy

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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: // Data version September 2023.

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Acute bilirubin encephalopathy?

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Advocacy Organizations

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).

Clinical Trials

For a list of clinical trials in this disease area, please click here.