Details of Disease

General Information of Disease (ID: DISQC3Q0)

Disease Name Acute neonatal citrullinemia type I
Synonyms classic citrullinemia type 1; acute neonatal citrullinemia type 1; classic citrullinemia type I
Definition
Acute neonatal citrullinemia type I is 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.
Disease Hierarchy
DISBV50J: Acute disease
DIS6MQUG: Argininosuccinate synthase deficiency
DISQC3Q0: Acute neonatal citrullinemia type I
Disease Identifiers
MONDO ID
MONDO_0016600
UMLS CUI
C5679618
MedGen ID
1843387
Orphanet ID
247546

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ASS1 OT4ZMG0Q Supportive Autosomal recessive [1]
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References

1 Citrullinemia Type I. 2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.