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. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Acute neonatal citrullinemia type I?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.