Management

There are currently no disease specific management guidelines for THG1L-related disorder. Management is currently supportive and focused on treating the affected systems.

Neurological evaluation should be considered. Individuals with a more severe phenotype may require feeding and respiratory support by gastrostomy and tracheostomy.

Additional symptoms, including congenital heart defects, haematological abnormalities, and inguinal hernia may require intervention. These symptoms have only been reported in one individual to date.