ACTIONABILITY KNOWLEDGE REPOSITORY ACTIONABILITY CURATION INTERFACE
Update History
Condition: N-Acetyl glutamate Synthase Deficiency (NAGSD)
Gene/Gene Panel: NAGS
Context: Pediatric
Date
Status
Release
Outcomes-Interventions
Notes
2023/04/27
Released
1.0.0
P
Morbidity and mortality due to hyperammonemia (GroupA)
Referral to a specialist to guide management, including N-carbamylglutamate, diet, and emergency planning (GroupA) 10NC
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
NAGS ⇔ 0009377 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGSD
Strong Actionability
Strong Actionability
2023/03/13
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic
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