Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Additional findings_Adult v1.47 | NAGS | Zornitza Stark Marked gene: NAGS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.47 | NAGS | Zornitza Stark Gene: nags has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.47 | NAGS | Zornitza Stark Classified gene: NAGS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.47 | NAGS | Zornitza Stark Gene: nags has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Adult v1.46 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency - MIM#237310 Review for gene: NAGS was set to GREEN Added comment: Severe deficiency typically presents in infancy but milder deficiency can present at any age. Metabolic decompensation can be triggered by intercurrent illness, fasting, protein loading, pregnancy/delivery. Hyperammonaemic encephalopathy is associated with high mortality rates. The American College of Medical Genetics and Genomics (ACMG) has developed an ACT sheet to help clinical decision-making during transition to adult health care: https://www.acmg.net/PDFLibrary/Nags-Deficiency-Transition.pdf. The mainstay of long-term management of NAGSD is treatment with carbamylglutamate (also called carglumic acid or N-carbamyl-L-glutamate), an oral NAGS analogue. Given the risk of acute metabolic decompensation during surgery and general anesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonaemic decompensations. Pregnancies should be managed as high risk. Steroids and valproic acid to be avoided. Sources: Expert list |