| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.10 | SLC25A15 | Zornitza Stark Marked gene: SLC25A15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.10 | SLC25A15 | Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.10 | SLC25A15 | Zornitza Stark Classified gene: SLC25A15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.10 | SLC25A15 | Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.9 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970 Review for gene: SLC25A15 was set to GREEN Added comment: Approximately one third of individuals present in adolescence/adulthood. Long-term management aims to maintain stable metabolic control, to reduce chronic complications, and to achieve as close to normal development and growth as possible. A low protein diet and citrulline or arginine supplementation is recommended, which prevents hyperammonemia and liver disease but the impact of these measures on pyramidal dysfunction is unclear. Optimal protein intake must be determined by individual titration in every individual. If protein tolerance is very low, essential amino acids have to be supplemented. Vitamin and trace element supplementation may also be required. A specialist metabolic dietitian should be involved. Nitrogen scavengers (sodium benzoate, sodium phenylbutyrate [PBA] or sodium phenylacetate, glycerol phenylbutyrate) are a mainstay of therapy in individuals with a UCD. Individualized dosing is recommended. Presentation can be non-specific and diagnostic delay is common. Sources: Expert list |
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