Acute neonatal citrullinemia type I

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Acute neonatal citrullinemia type I

Synonyms: Acute neonatal citrullinemia type 1 | Early-onset citrullinemia type 1 | Early-onset citrullinemia type I

A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy poor feeding and vomiting seizures and possible loss of consciousness within one to a few days of birth with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.

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. Ā© INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Acute neonatal citrullinemia type I?

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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.