Details of Disease | DrugMAP

General Information of Disease (ID: DISSA99C)

Disease Name	Adult-onset citrullinemia type I
Synonyms	late-onset citrullinemia type 1; late-onset citrullinemia type I; adult-onset citrullinemia type 1
Definition	Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
Disease Hierarchy	DIS6MQUG: Argininosuccinate synthase deficiency DISSA99C: Adult-onset citrullinemia type I

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.