Table 2.
Information and diagnostic services provided by MGS/HCPA in the field of inborn errors of metabolism
| Network | Main Goals | Target audience | Contact information | Started operation in | Average yearly rate of referrals | Average yearly rate of diagnosis |
|---|---|---|---|---|---|---|
| SIEM (Information Service on Metabolic Errors) | Provide information and guidance on diagnosis and urgent management of IEM | Health professionals | 0800–510–2858 siem@ufrgs.br www.siem.ufrgs.br |
2001 | 200 | 30 |
| IEM Brazil Network | Provide information and diagnostic support in cases with suspected inborn error of intermediate metabolism | Health professionals, especially MDs | 0800–645–2101 eim@ufrgs.br www.eim.ufrgs.br |
2006 | 800 | 75 |
| MPS Brazil Network | Provide information and diagnostic support in cases with suspected mucopolysaccharidoses | Health professionals, families and general public | 0800–510–2030 mps@ufrgs.br www.mps.ufrgs.br |
2004 | 700 | 65 |
| DLD Brazil Network | Provide diagnostic support in cases of suspected lysosomal disease (except MPS or NPC) | Health professionals, especially MDs | 0800–643–8011 dld@ufrgs.br www.dld.ufrgs.br |
2012 | 700 | 20 |
| NPC Brazil Network | Provide diagnostic support in cases of suspected Niemann-Pick disease type C | Health professionals, especially MDs | 0800–643–8011 npc@ufrgs.br www.ufrgs.br/geneticahcpa/npc/ |
2010 | 250 | 15 |
| DXB Network | Provide diagnostic support in cases of suspected Maple Syrup Urine Disease (MSUD) | Health professionals, especially MDs | 0800–645–2101 faleconosco@redexaropedobordo.com.br http://redexaropedobordo.com.br/ |
2015 | 20 | 15 |