Kalıtsal Metabolik Hastalıklar
Özet
Referanslar
Mansoor S, Qamar R, Azam M. Inborn errors of metabolism: Historical perspectives to contemporary management. Clin Chim Acta. 2024 Aug 15;562:119883. doi: 10.1016/j.cca.2024.119883. Epub 2024 Jul 30. PMID: 39084485.
Gambello MJ, Li H. Current strategies for the treatment of inborn errors of metabolism. J Genet Genomics. 2018 Feb 20;45(2):61-70.
Saudubray JM, Baumgartner MR, Walter J, et al (eds). Inborn Metabolic Diseases Diagnosis and Treatment (7th ed): Heidelberg: Springer, 2022
Lee N, Kim D. Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other. Metabolites. 2022 Jun 8;12(6):527.
https://hsgm.saglik.gov.tr/tr/cocukergen-anasayfa
Robert M, et al. (eds). Nelson Texbook of Pediatrics (20th ed): Philadelphia: Elsevier, 2016
Neyzi O, Ertuğrul T. Pediyatri (4.baskı): İstanbul: Nobel, 2010
van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Erratum in: Orphanet J Rare Dis. 2020 Sep 1;15(1):230.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17. PMID: 24881969.
Yurdakök M. Yurdakök Pediatri: Ankara: GüneşTıp Kitabevleri, 2017
Jouvet P, Jugie M, Rabier D, Desgrès J, Hubert P, Saudubray JM, Man NK. Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med. 2001 Nov;27(11):1798-806.
Bärhold F, Meyer U, Neugebauer AK, et al.. Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome. Nutrients. 2020 Dec 31;13(1):134.
Arnon R, Annunziato R, Miloh T, et al. Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database: liver transplantation for tyrosinemia. Pediatr Transplant. 2011;15:400–5.
Menon J, Shanmugam N, Valamparampil JJ, Hakeem A, Vij M, Jalan A, Reddy MS, Rela M. Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1. Indian J Pediatr. 2022 May;89(5):438-444.
Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6.
Nyhan W, Hoffmann G, et al. (eds). Atlas of Inherited Metabolic Diseases (4th ed): Boca Raton: Taylor & Francis Group, 2020
Nowak M, Chuchra P, Paprocka J. Nonketotic Hyperglycinemia: Insight into Current Therapies. J Clin Med. 2022 May 27;11(11):3027.
https://www.uptodate.com/contents/urea-cycle-disorders
Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Metab. 2013; 110:179-180.
Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatr Clin North Am. 2018 Apr;65(2):231-246.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230.
Gerrard A, Dawson C. Homocystinuria diagnosis and management: it is not all classical. J Clin Pathol. 2022 Sep 19:jclinpath-2021-208029.
Ochoa-Ferraro A, Wanninayake S, Dawson C, Gerrard A, Preece MA, Geberhiwot T. A case series of cerebral venous thrombosis as the first manifestation of homocystinuria. Eur Stroke J. 2021 Dec;6(4):420-427.
Canda E, Kalkan Uçar S, Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric health, medicine and therapeutics, 2020; 11, 127–133.
Baykal T, Hüner G, Sarbat G, Demirkol M. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr. 1998; 87:1102–1103.
Wolf B. Biotinidase Deficiency. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301497.
Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. 2012 Jun;14(6):565-75.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. Biomolecules. 2022 ;12(7):968.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018 Jun;83:188-196.
Febbraio MA, Karin M. "Sweet death": Fructose as a metabolic toxin that targets the gut-liver axis. Cell Metab. 2021 Dec 7;33(12):2316-2328.
Olpin SE. Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability. J Inherit Metab Dis. 2013 Jul;36(4):645-58.
Pastores GM. Lysosomal storage disorders: Clinical and therapeutic aspects. Handb Clin Neurol. 2023;196:557-567.
Lachmann RH. Treating lysosomal storage disorders: What have we learnt? J Inherit Metab Dis. 2020 Jan;43(1):125-132.
Sheth J, Nair A. Treatment for Lysosomal Storage Disorders. Curr Pharm Des. 2020;26(40):5110-5118.
Referanslar
Mansoor S, Qamar R, Azam M. Inborn errors of metabolism: Historical perspectives to contemporary management. Clin Chim Acta. 2024 Aug 15;562:119883. doi: 10.1016/j.cca.2024.119883. Epub 2024 Jul 30. PMID: 39084485.
Gambello MJ, Li H. Current strategies for the treatment of inborn errors of metabolism. J Genet Genomics. 2018 Feb 20;45(2):61-70.
Saudubray JM, Baumgartner MR, Walter J, et al (eds). Inborn Metabolic Diseases Diagnosis and Treatment (7th ed): Heidelberg: Springer, 2022
Lee N, Kim D. Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other. Metabolites. 2022 Jun 8;12(6):527.
https://hsgm.saglik.gov.tr/tr/cocukergen-anasayfa
Robert M, et al. (eds). Nelson Texbook of Pediatrics (20th ed): Philadelphia: Elsevier, 2016
Neyzi O, Ertuğrul T. Pediyatri (4.baskı): İstanbul: Nobel, 2010
van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. Erratum in: Orphanet J Rare Dis. 2020 Sep 1;15(1):230.
Frazier DM, Allgeier C, Homer C, Marriage BJ, Ogata B, Rohr F, Splett PL, Stembridge A, Singh RH. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach. Mol Genet Metab. 2014 Jul;112(3):210-7. doi: 10.1016/j.ymgme.2014.05.006. Epub 2014 May 17. PMID: 24881969.
Yurdakök M. Yurdakök Pediatri: Ankara: GüneşTıp Kitabevleri, 2017
Jouvet P, Jugie M, Rabier D, Desgrès J, Hubert P, Saudubray JM, Man NK. Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease. Intensive Care Med. 2001 Nov;27(11):1798-806.
Bärhold F, Meyer U, Neugebauer AK, et al.. Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome. Nutrients. 2020 Dec 31;13(1):134.
Arnon R, Annunziato R, Miloh T, et al. Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database: liver transplantation for tyrosinemia. Pediatr Transplant. 2011;15:400–5.
Menon J, Shanmugam N, Valamparampil JJ, Hakeem A, Vij M, Jalan A, Reddy MS, Rela M. Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1. Indian J Pediatr. 2022 May;89(5):438-444.
Scott CR. The genetic tyrosinemias. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6.
Nyhan W, Hoffmann G, et al. (eds). Atlas of Inherited Metabolic Diseases (4th ed): Boca Raton: Taylor & Francis Group, 2020
Nowak M, Chuchra P, Paprocka J. Nonketotic Hyperglycinemia: Insight into Current Therapies. J Clin Med. 2022 May 27;11(11):3027.
https://www.uptodate.com/contents/urea-cycle-disorders
Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Metab. 2013; 110:179-180.
Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatr Clin North Am. 2018 Apr;65(2):231-246.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019 Nov;42(6):1192-1230.
Gerrard A, Dawson C. Homocystinuria diagnosis and management: it is not all classical. J Clin Pathol. 2022 Sep 19:jclinpath-2021-208029.
Ochoa-Ferraro A, Wanninayake S, Dawson C, Gerrard A, Preece MA, Geberhiwot T. A case series of cerebral venous thrombosis as the first manifestation of homocystinuria. Eur Stroke J. 2021 Dec;6(4):420-427.
Canda E, Kalkan Uçar S, Çoker M. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. Pediatric health, medicine and therapeutics, 2020; 11, 127–133.
Baykal T, Hüner G, Sarbat G, Demirkol M. Incidence of biotinidase deficiency in Turkish newborns. Acta Paediatr. 1998; 87:1102–1103.
Wolf B. Biotinidase Deficiency. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301497.
Wolf B. Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genet Med. 2012 Jun;14(6):565-75.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. Biomolecules. 2022 ;12(7):968.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018 Jun;83:188-196.
Febbraio MA, Karin M. "Sweet death": Fructose as a metabolic toxin that targets the gut-liver axis. Cell Metab. 2021 Dec 7;33(12):2316-2328.
Olpin SE. Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability. J Inherit Metab Dis. 2013 Jul;36(4):645-58.
Pastores GM. Lysosomal storage disorders: Clinical and therapeutic aspects. Handb Clin Neurol. 2023;196:557-567.
Lachmann RH. Treating lysosomal storage disorders: What have we learnt? J Inherit Metab Dis. 2020 Jan;43(1):125-132.
Sheth J, Nair A. Treatment for Lysosomal Storage Disorders. Curr Pharm Des. 2020;26(40):5110-5118.
