Table 2 Information and diagnostic services provided by MGS/HCPA in the field of inborn errors of metabolism
From: Rare disease landscape in Brazil: report of a successful experience in 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 | 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 | 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 | 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 | 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 | 2015 | 20 | 15 |