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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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.
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.
For a list of clinical trials in this disease area, please click here.