Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
SLC25A15 causes ammonia to accumulate in the blood and is toxic if the levels become too high. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Additional complications may include developmental delay, learning disabilities, and stiffness caused by abnormal tensing of the muscles.
Specific mutation analysis of the SLC25A15 gene include p.F188delTTC (c.562_564del3), p.G27R and p.R179X.