Table 1.

Genetic disorders under federal clinical protocols and guidelines for treatment including those from the newborn screening

Disease	Treatment	Ministry of Health official programs updated	Overall estimated prevalence3
Included in newborn screening
Congenital adrenal hyperplasia	Replacement hormone medication	2010	1:7500–1:17,0914 (Brazil)
Congenital Hypothyrodism1	Levothyroxine2	2010	1:3808 (Brazil)
Cystic fibrosis	Pancreatic enzymes; dornase alfa	2010	1:70005–1: 13,073 (Brazil)
Sickle cell anemia	Hydroxyurea	2010	1:10006–1:3129 (Brazil)
Phenylketonuria	Dietary supplement	2013	1:24,780 (Brazil)
Biotinidase deficiency	Biotin2	–	1:61,0677
Not included in newborn screening
Gaucher	Enzyme replacement	2011	1:57,0008
Hereditary angioedema	Danazol	2010	1:10,000–1:50,0009
Hereditary ichthyosis	Retinoid	2010	1:4000 males (X linked form – Germany)10
Osteogenesis Imperfecta	Bisphophonates	2013	0.74:10,00011
Primary immunodeficiencies: antibody deficiencies	Immunoglobulin	2007	0.12:100,00012
Turner syndrome	Growth hormone	2010	1:1500–1:2500 females13
Wilson disease	Chelation therapy, zinc acetate	2013	1:30,00014

¹Included in the newborn screening despite not being a genetic disorder.

²The medication is available in SUS, although there is no clinical protocol established.

³Brazilian Society of Newborn Screening (SBTN). In general, it was used data from the SBTN; prevalence estimates, however, varies across different data sets.

⁴Silveira et al. (2008), Pezzuti et al. (2014).

⁵Raskin et al. (2008).

⁶Cançado and Jesus (2007).

⁷Wolf (1991).

⁸Meikle et al. (1999).

⁹Bork et al. (2003).

¹⁰Traupe et al. (2014).

¹¹Prevalence based on South America countries (Barbosa-Buck et al. (2012)).

¹²Leiva et al. (2007).

¹³Saenger (1996).

¹⁴Bachmann et al. (1991).