Kalıtsal Metabolik Hastalıklar ve Spor
Özet
Kalıtsal metabolik hastalıklar (KMH), çocukların spor aktivitelerine katılımını etkileyebilen nadir genetik bozukluklardır. Bu hastalıklar, vücudun enerji üretim süreçlerini bozarak fiziksel, nörolojik ve kardiyovasküler sorunlara yol açabilir. Spor yapmak, KMH’lı çocukların sosyal entegrasyonunu ve fiziksel gelişimini destekleyebilir, ancak egzersiz programları kişiye özel olarak düzenlenmelidir. Özellikle protein metabolizması bozuklukları gibi durumlarda, egzersiz öncesi ve sonrası kalori alımı gibi önlemler hayati önem taşır. Mitokondriyal hastalıklar ve glikojen depo hastalıkları gibi enerji metabolizması bozukluklarında ise, kontrollü ve uyarlanmış sporlar önerilmektedir. Uygun tedavi ve erken teşhis ile KMH’lı çocukların spor yaparak hem fiziksel hem de psikolojik açıdan fayda görmesi mümkündür. Bu makale, KMH'lı çocukların spor aktivitelerine katılımını optimize etmenin yollarını incelemektedir.
Referanslar
Fong C-TJPir. BACK TO BASICS: Principles of Inborn Errors of Metabolism: An Exercise. 1995;16(10):390-395.
Sietsema KE, Stringer WW, Sue DY, et al. Wasserman & Whipp's: principles of exercise testing and interpretation: including pathophysiology and clinical applications: Lippincott Williams & Wilkins; 2020.
Organization WH. Health and development through physical activity and sport. World Health Organization; 2003.
Mazzola PN, Bruinenberg V, Anjema K, et al. Voluntary exercise prevents oxidative stress in the brain of phenylketonuria mice. 2016:69-77.
Tankeu AT, Van Winckel G, Campos-Xavier B, et al. Classical homocystinuria, is it safe to exercise? 2021;27:100746.
Serrano M, Vilaseca MA, Campistol JJAMdlE. Inborn errors of metabolism and sports. 2010;45(167):185-189.
Berry GT, Steiner RDJTJop. Long-term management of patients with urea cycle disorders. 2001;138(1):S56-S61.
El-Gharbawy AHJPNfD. 23 Inborn Errors of Metabolism. 2022:337.
Noguchi A, Takahashi TJJoHG. Overview of symptoms and treatment for lysinuric protein intolerance. 2019;64(9):849-858.
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. 2013;34(45):3478-3490.
Hu P, Dharmayat KI, Stevens CA, et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis. 2020;141(22):1742-1759.
Sjouke B, Kusters DM, Kindt I, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome. 2015;36(9):560-565.
de Ferranti SD, Newburger JWJU, Waltham, MA, USA. Dyslipidemia in children and adolescents: Definition, screening, and diagnosis. 2020.
Luirink IK, Hutten BA, Wiegman AJCCR. Optimizing treatment of familial hypercholesterolemia in children and adolescents. 2015;17:1-8.
Melkonian EA, Asuka E, Schury MP. Physiology, gluconeogenesis. 2019.
van den Berg LE, Favejee MM, Wens SC, et al. Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program. 2015;10(1):1-8.
Terzis G, Krase A, Papadimas G, et al. Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy. 2012;107(4):669-673.
Haley SM, Fragala MA, Skrinar AMJDm, et al. Pompe disease and physical disability. 2003;45(9):618-623.
Braakhekke JP, de Bruin MI, Stegeman DF, et al. The second wind phenomenon in McArdle's disease. Brain : a journal of neurology. 1986;109 ( Pt 6):1087-1101.
Nogales-Gadea G, Santalla A, Ballester-Lopez A, et al. Exercise and preexercise nutrition as treatment for McArdle disease. 2016.
Fritzen AM, Lundsgaard A-M, Kiens BJNRE. Tuning fatty acid oxidation in skeletal muscle with dietary fat and exercise. 2020;16(12):683-696.
Rahman SJJoim. Mitochondrial disease in children. 2020;287(6):609-633.
Sun AJAotm. Lysosomal storage disease overview. 2018;6(24).
ANA–MARIA TJJoPE, Sport. Study on the importance of physical exercise in recovering children with Mucoplizaharidose type B by means specific to physiotherapy. 2019;19:2305-2308.
Schmitz B, Thorwesten L, Lenders M, et al. Physical exercise in patients with Fabry disease–a pilot study. 2016;37(13):1066-1072.
Pastores GM, Hughes DA. Gaucher disease. 2018.
Grünewald S, Matthijs G, Jaeken JJPr. Congenital disorders of glycosylation: a review. 2002;52(5):618-624.
Referanslar
Fong C-TJPir. BACK TO BASICS: Principles of Inborn Errors of Metabolism: An Exercise. 1995;16(10):390-395.
Sietsema KE, Stringer WW, Sue DY, et al. Wasserman & Whipp's: principles of exercise testing and interpretation: including pathophysiology and clinical applications: Lippincott Williams & Wilkins; 2020.
Organization WH. Health and development through physical activity and sport. World Health Organization; 2003.
Mazzola PN, Bruinenberg V, Anjema K, et al. Voluntary exercise prevents oxidative stress in the brain of phenylketonuria mice. 2016:69-77.
Tankeu AT, Van Winckel G, Campos-Xavier B, et al. Classical homocystinuria, is it safe to exercise? 2021;27:100746.
Serrano M, Vilaseca MA, Campistol JJAMdlE. Inborn errors of metabolism and sports. 2010;45(167):185-189.
Berry GT, Steiner RDJTJop. Long-term management of patients with urea cycle disorders. 2001;138(1):S56-S61.
El-Gharbawy AHJPNfD. 23 Inborn Errors of Metabolism. 2022:337.
Noguchi A, Takahashi TJJoHG. Overview of symptoms and treatment for lysinuric protein intolerance. 2019;64(9):849-858.
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. 2013;34(45):3478-3490.
Hu P, Dharmayat KI, Stevens CA, et al. Prevalence of familial hypercholesterolemia among the general population and patients with atherosclerotic cardiovascular disease: a systematic review and meta-analysis. 2020;141(22):1742-1759.
Sjouke B, Kusters DM, Kindt I, et al. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome. 2015;36(9):560-565.
de Ferranti SD, Newburger JWJU, Waltham, MA, USA. Dyslipidemia in children and adolescents: Definition, screening, and diagnosis. 2020.
Luirink IK, Hutten BA, Wiegman AJCCR. Optimizing treatment of familial hypercholesterolemia in children and adolescents. 2015;17:1-8.
Melkonian EA, Asuka E, Schury MP. Physiology, gluconeogenesis. 2019.
van den Berg LE, Favejee MM, Wens SC, et al. Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program. 2015;10(1):1-8.
Terzis G, Krase A, Papadimas G, et al. Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy. 2012;107(4):669-673.
Haley SM, Fragala MA, Skrinar AMJDm, et al. Pompe disease and physical disability. 2003;45(9):618-623.
Braakhekke JP, de Bruin MI, Stegeman DF, et al. The second wind phenomenon in McArdle's disease. Brain : a journal of neurology. 1986;109 ( Pt 6):1087-1101.
Nogales-Gadea G, Santalla A, Ballester-Lopez A, et al. Exercise and preexercise nutrition as treatment for McArdle disease. 2016.
Fritzen AM, Lundsgaard A-M, Kiens BJNRE. Tuning fatty acid oxidation in skeletal muscle with dietary fat and exercise. 2020;16(12):683-696.
Rahman SJJoim. Mitochondrial disease in children. 2020;287(6):609-633.
Sun AJAotm. Lysosomal storage disease overview. 2018;6(24).
ANA–MARIA TJJoPE, Sport. Study on the importance of physical exercise in recovering children with Mucoplizaharidose type B by means specific to physiotherapy. 2019;19:2305-2308.
Schmitz B, Thorwesten L, Lenders M, et al. Physical exercise in patients with Fabry disease–a pilot study. 2016;37(13):1066-1072.
Pastores GM, Hughes DA. Gaucher disease. 2018.
Grünewald S, Matthijs G, Jaeken JJPr. Congenital disorders of glycosylation: a review. 2002;52(5):618-624.
