| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.6 | SLC25A13 | Zornitza Stark Marked gene: SLC25A13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.6 | SLC25A13 | Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.6 | SLC25A13 | Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.6 | SLC25A13 | Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.5 | SLC25A13 |
Zornitza Stark gene: SLC25A13 was added gene: SLC25A13 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A13 were set to Citrullinaemia, adult-onset type II, MIM# 603471 Review for gene: SLC25A13 was set to GREEN Added comment: CTLN2 typically presents in childhood but presents with hyperammonaemia in adolescence or adulthood. Presentation is sudden and usually between ages 20 and 50 years. Misdiagnosis and delayed diagnosis in adults is common. Possible interventions include liver transplantation and/or dietary therapy, ongoing blood monitoring, and avoidance of possible triggers (e.g., medications and alcohol). Individuals with UCDs require lifelong monitoring by a multidisciplinary team. Long-term treatment of UCDs is challenging for individuals and families because of the poor palatability (particularly of essential amino acids), the volume and frequency of diet and drug administrations. Nasogastric tube or gastrostomy feeding may be necessary to ensure sufficient energy and/or protein intake. Sodium pyruvate is administered orally as a powder, granules, capsules, tablets, or liquid. Sources: Expert list |
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