Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Additional findings_Adult v1.20 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Additional findings_Adult v1.20 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.20 CPS1 Zornitza Stark Classified gene: CPS1 as Green List (high evidence)
Additional findings_Adult v1.20 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.19 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency MIM#237300
Review for gene: CPS1 was set to GREEN
Added comment: Can rarely present in adulthood, including in the postpartum period with coma.

ACMG factsheet relating to management of adults: https://www.acmg.net/PDFLibrary/CPS-I-Deficiency-Transition.pdf.

Management aims to maintain stable metabolic control and to reduce or eliminate chronic complications. Treatment includes medications to promote waste nitrogen excretion (nitrogen scavengers such as sodium benzoate, sodium phenylacetate, sodium phenylbutyrate, and glycerol phenylbutyrate); low-protein diet; and supplementation with arginine or citrulline, essential nutrients, and essential amino acids.

Given the risk of acute metabolic decompensation during surgery and general anaesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonemic decompensations. Specialised management is also required during pregnancy.

Steroids and valproate are to be avoided.
Sources: Expert list