Organic Acidurias |
Riboflavin |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Lilliu, 2010Lilliu, F. Treatment of organic acidurias and urea cycle disorders. Journal of Maternal-Fetal and Neonatal Medicine. 2010; 23 (SUPPL. 3), pp. 73-75. doi: 10.3109/14767058.2010.509932. https://doi.org/10.3109/14767058.2010.50...
|
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Sodium Benzoate |
Baumgartner et al., 2014Baumgartner, M.R. et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases. 2014; 9(1), pp. 1-36. doi: 10.1186/s13023-014-0130-8. https://doi.org/10.1186/s13023-014-0130-...
|
Biotin |
Lilliu, 2010Lilliu, F. Treatment of organic acidurias and urea cycle disorders. Journal of Maternal-Fetal and Neonatal Medicine. 2010; 23 (SUPPL. 3), pp. 73-75. doi: 10.3109/14767058.2010.509932. https://doi.org/10.3109/14767058.2010.50...
|
Sodium phenylbutyrate |
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Lilliu, 2010Lilliu, F. Treatment of organic acidurias and urea cycle disorders. Journal of Maternal-Fetal and Neonatal Medicine. 2010; 23 (SUPPL. 3), pp. 73-75. doi: 10.3109/14767058.2010.509932. https://doi.org/10.3109/14767058.2010.50...
|
Glycine |
Alfadhel et al. 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
Hydroxycobalamin |
Baumgartner et al., 2014Baumgartner, M.R. et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases. 2014; 9(1), pp. 1-36. doi: 10.1186/s13023-014-0130-8. https://doi.org/10.1186/s13023-014-0130-...
|
L-Arginine |
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
Lysine |
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
L-Carnitine |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Baumgartner et al., 2014Baumgartner, M.R. et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases. 2014; 9(1), pp. 1-36. doi: 10.1186/s13023-014-0130-8. https://doi.org/10.1186/s13023-014-0130-...
|
Kölker et al., 2011Kölker, S. et al. Diagnosis and management of glutaric aciduria type I - revised recommendations. Journal of Inherited Metabolic Disease. 2011; 34(3), pp. 677-694. doi: 10.1007/s10545-011-9289-5. https://doi.org/10.1007/s10545-011-9289-...
|
L-Isoleucine |
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
L-Valina |
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
N-carbamyl glutamate |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Baumgartner et al., 2014Baumgartner, M.R. et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases. 2014; 9(1), pp. 1-36. doi: 10.1186/s13023-014-0130-8. https://doi.org/10.1186/s13023-014-0130-...
|
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Thiamine |
Lilliu, 2010Lilliu, F. Treatment of organic acidurias and urea cycle disorders. Journal of Maternal-Fetal and Neonatal Medicine. 2010; 23 (SUPPL. 3), pp. 73-75. doi: 10.3109/14767058.2010.509932. https://doi.org/10.3109/14767058.2010.50...
|
Pyridoxine-dependent Seizures |
Pyridoxal Phosphate |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Biotinidase deficiency |
Biotine |
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Primary and Secondary Carnitine Deficiency |
L-Carnitine |
Lilliu, 2010Lilliu, F. Treatment of organic acidurias and urea cycle disorders. Journal of Maternal-Fetal and Neonatal Medicine. 2010; 23 (SUPPL. 3), pp. 73-75. doi: 10.3109/14767058.2010.509932. https://doi.org/10.3109/14767058.2010.50...
|
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Sutton et al., 2012Sutton, V.R. et al. Chronic management and health supervision of individuals with propionic acidemia. Molecular Genetics and Metabolism . 2012; 105(1), pp. 26-33. Available at: http://dx.doi.org/10.1016/j.ymgme.2011.08.034. http://dx.doi.org/10.1016/j.ymgme.2011.0...
|
Glutathione Synthetase Deficiency |
Vitamin E |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Primary Coenzyme Q10 deficiency |
Ubiquinone (Coenzyme Q10) |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Urea cycle disorders |
Sodium Benzoate |
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Lilliu, 2010Lilliu, F. Treatment of organic acidurias and urea cycle disorders. Journal of Maternal-Fetal and Neonatal Medicine. 2010; 23 (SUPPL. 3), pp. 73-75. doi: 10.3109/14767058.2010.509932. https://doi.org/10.3109/14767058.2010.50...
|
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Biotin |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Baumgartner et al., 2014Baumgartner, M.R. et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases. 2014; 9(1), pp. 1-36. doi: 10.1186/s13023-014-0130-8. https://doi.org/10.1186/s13023-014-0130-...
|
Conitec, 2012Comissão Nacional de Incorporação de Tecnologias no SUS - CONITEC. Biotina para o Tratamento da Deficiência de Biotinidase. Relatório de Recomendação 06. 2012; pp 1-17.
|
Sodium phenylbutyrate |
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
L-Arginine |
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
L-Citrulline |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Lysine |
Kölker et al., 2011Kölker, S. et al. Diagnosis and management of glutaric aciduria type I - revised recommendations. Journal of Inherited Metabolic Disease. 2011; 34(3), pp. 677-694. doi: 10.1007/s10545-011-9289-5. https://doi.org/10.1007/s10545-011-9289-...
|
N-carbamyl glutamate |
Häberle et al., 2012Häberle, J. et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases . 2012; 42(6), pp. 1192-1230. doi: 10.1002/ jimd.12100. https://doi.org/10.1002/ jimd.12100....
|
Schiff, Blom, 2012Schiff, M. and Blom, H.J. Treatment of inherited homocystinurias. Neuropediatrics. 2012; 43(6), pp. 295-304. doi: 10.1055/s-0032-1329883. https://doi.org/10.1055/s-0032-1329883....
|
Pyridoxine |
Schiff, Blom, 2012Schiff, M. and Blom, H.J. Treatment of inherited homocystinurias. Neuropediatrics. 2012; 43(6), pp. 295-304. doi: 10.1055/s-0032-1329883. https://doi.org/10.1055/s-0032-1329883....
|
Pyridoxine |
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Thiamine |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Frazier et al., 2014Frazier, D.M. et al. Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach. Molecular Genetics and Metabolism . 2014; 112(3) pp. 210-217. Available at: http://dx.doi.org/10.1016/j.ymgme.2014.05.006. http://dx.doi.org/10.1016/j.ymgme.2014.0...
|
Maple Syrup Urine Disease |
L-Isoleucine |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Singh et al., 2016Singh, R.H. et al. Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Molecular Genetics and Metabolism . 2016; 118(2), pp. 72-83. doi: 10.1016/j.ymgme.2016.04.008. https://doi.org/10.1016/j.ymgme.2016.04....
|
L-Valina |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Frazier et al., 2014Frazier, D.M. et al. Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach. Molecular Genetics and Metabolism . 2014; 112(3) pp. 210-217. Available at: http://dx.doi.org/10.1016/j.ymgme.2014.05.006. http://dx.doi.org/10.1016/j.ymgme.2014.0...
|
Thiamine |
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Phenylketonuria |
Glutamine |
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|
Sapropterina |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Cunningham et al., 2012Cunningham, A. et al. Recommendations for the use of sapropterin in phenylketonuria. Molecular Genetics and Metabolism. 2012; 106(3) pp. 269-276. Available at: http://dx.doi.org/10.1016/j.ymgme.2012.04.004. http://dx.doi.org/10.1016/j.ymgme.2012.0...
|
MacLeod and Ney, 2010MacLeod, E.L. and Ney, D.M. Nutritional management of phenylketonuria. Annales Nestle. 2010; 68(2), pp. 58-69. doi: 10.1159/000312813. https://doi.org/10.1159/000312813....
|
Singh et al., 2016Singh, R.H. et al. Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach. Molecular Genetics and Metabolism . 2016; 118(2), pp. 72-83. doi: 10.1016/j.ymgme.2016.04.008. https://doi.org/10.1016/j.ymgme.2016.04....
|
Somaraju, Merrin, 2015Somaraju, U.R. and Merrin, M. Sapropterin dihydrochloride for phenylketonuria. Cochrane Database of Systematic Reviews 2015(3). 2015 doi: 10.1002/14651858.CD008005.pub4. https://doi.org/10.1002/14651858.CD00800...
|
Familial hypercholesterolemia |
Atorvastatin |
Vuorio et al., 2017Vuorio, A. et al. Statins for children with familial hypercholesterolemia. Cochrane Database of Systematic Reviews 2019(11). 2017. doi: 10.1002/14651858.CD006401. pub5. https://doi.org/10.1002/14651858.CD00640...
|
Colesevelam |
Davidson, 2011Davidson, M.H. A systematic review of bile acid sequestrant therapy in children with familial hypercholesterolemia. Journal of Clinical Lipidology. 2011; 5(2) pp. 76-81. Available at: http://dx.doi.org/10.1016/j.jacl.2011.01.005. http://dx.doi.org/10.1016/j.jacl.2011.01...
|
Colestipol |
Cholestyramine |
Pravastatin |
O’Gorman et al., 2009O’Gorman, C.S., Higgins, M.F. and O’Neill, M.B. Systematic review and metaanalysis of statins for heterozygous familial hypercholesterolemia in children: Evaluation of cholesterol changes and side effects. Pediatric Cardiology. 2009; 30(4), pp. 482-489. doi: 10.1007/s00246-008-9364-3. https://doi.org/10.1007/s00246-008-9364-...
|
Vuorio et al., 2017Vuorio, A. et al. Statins for children with familial hypercholesterolemia. Cochrane Database of Systematic Reviews 2019(11). 2017. doi: 10.1002/14651858.CD006401. pub5. https://doi.org/10.1002/14651858.CD00640...
|
Rosuvastatin |
Vuorio et al., 2017Vuorio, A. et al. Statins for children with familial hypercholesterolemia. Cochrane Database of Systematic Reviews 2019(11). 2017. doi: 10.1002/14651858.CD006401. pub5. https://doi.org/10.1002/14651858.CD00640...
|
Simvastatin |
O’Gorman et al., 2009O’Gorman, C.S., Higgins, M.F. and O’Neill, M.B. Systematic review and metaanalysis of statins for heterozygous familial hypercholesterolemia in children: Evaluation of cholesterol changes and side effects. Pediatric Cardiology. 2009; 30(4), pp. 482-489. doi: 10.1007/s00246-008-9364-3. https://doi.org/10.1007/s00246-008-9364-...
|
Vuorio et al., 2017Vuorio, A. et al. Statins for children with familial hypercholesterolemia. Cochrane Database of Systematic Reviews 2019(11). 2017. doi: 10.1002/14651858.CD006401. pub5. https://doi.org/10.1002/14651858.CD00640...
|
Homocystinuria |
Folic Acid |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Betaine |
Diekman et al., 2014Diekman, E.F., De Koning, T.J., Verhoeven-Duif, N.M., Rovers, M.M. and Van Hasselt, P.M. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency. JAMA Neurology. 2014; 71(2), pp. 188-194. doi: 10.1001/jamaneurol.2013.4915. https://doi.org/10.1001/jamaneurol.2013....
|
Morris et al., 2017Morris, A.A.M. et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of Inherited Metabolic Disease . 2017; 40(1), pp. 49-74. doi: 10.1007/s10545-016-9979-0. https://doi.org/10.1007/s10545-016-9979-...
|
Hydroxycobalamin |
Schiff, Blom, 2012Schiff, M. and Blom, H.J. Treatment of inherited homocystinurias. Neuropediatrics. 2012; 43(6), pp. 295-304. doi: 10.1055/s-0032-1329883. https://doi.org/10.1055/s-0032-1329883....
|
Pyridoxine |
Morris et al., 2017Morris, A.A.M. et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of Inherited Metabolic Disease . 2017; 40(1), pp. 49-74. doi: 10.1007/s10545-016-9979-0. https://doi.org/10.1007/s10545-016-9979-...
|
Folinic Acid |
Alfadhel et al., 2013Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013;98(6):454-461.
|
Schiff, Blom, 2012Schiff, M. and Blom, H.J. Treatment of inherited homocystinurias. Neuropediatrics. 2012; 43(6), pp. 295-304. doi: 10.1055/s-0032-1329883. https://doi.org/10.1055/s-0032-1329883....
|
Schwartz, Souza, Giugliani, 2008Schwartz IV, Souza CFM, Giugliani R. Treatment of inborn errors of metabolism. J Pediatr. (Rio J). 2008;84(4 Sup):S8-S19.
|
Tyrosinemia Type 1 |
Phenylalanine |
Van Vliet et al., 2014Van Vliet, D., Derks, T.G., Van Rijn, M., De Groot, M.J., Macdonald, A., Heiner-Fokkema, M.R. and Van Spronsen, F.J. Single amino acid supplementation in aminoacidopathies: A systematic review. Orphanet Journal of Rare Diseases . 2014; 9(1), pp. 1-14. doi: 10.1186/1750-1172-9-7. https://doi.org/10.1186/1750-1172-9-7....
|