Serebral Palsiyi Taklit Eden Kalıtsal Metabolik Hastalıklar

Yazarlar

Merve Setenay Akyüzlüer Güneş
https://orcid.org/0000-0003-4987-5628

Özet

Referanslar

Abdelfattah, F., Kariminejad, A., Kahlert, A. K., Morrison, P. J., Gumus, E., Mathews, K. D., . . . Schanze, D. (2020). Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Hum Mutat, 41(9), 1615-1628. doi:10.1002/humu.24067

Ah Mew, N., Simpson, K. L., Gropman, A. L., Lanpher, B. C., Chapman, K. A., & Summar, M. L. (1993). Urea Cycle Disorders Overview. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Al Salloum, A. A., El Mouzan, M. I., Al Omar, A. A., Al Herbish, A. S., & Qurashi, M. M. (2011). The prevalence of neurological disorders in Saudi children: a community-based study. J Child Neurol, 26(1), 21-24. doi:10.1177/0883073810371510

Almási, T., Guey, L. T., Lukacs, C., Csetneki, K., Vokó, Z., & Zelei, T. (2019). Systematic literature review and meta-analysis on the epidemiology of propionic acidemia. Orphanet J Rare Dis, 14(1), 40. doi:10.1186/s13023-018-0987-z

Baehner, F., Schmiedeskamp, C., Krummenauer, F., Miebach, E., Bajbouj, M., Whybra, C., . . . Beck, M. (2005). Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis, 28(6), 1011-1017. doi:10.1007/s10545-005-0112-z

Ball, M., Thorburn, D. R., & Rahman, S. (1993). Mitochondrial DNA-Associated Leigh Syndrome Spectrum. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Barczykowski, A. L., Foss, A. H., Duffner, P. K., Yan, L., & Carter, R. L. (2012). Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. Am J Med Genet A, 158a(11), 2835-2842. doi:10.1002/ajmg.a.35624

Bezman, L., & Moser, H. W. (1998). Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet, 76(5), 415-419.

Blau, N., van Spronsen, F. J., & Levy, H. L. (2010). Phenylketonuria. Lancet, 376(9750), 1417-1427. doi:10.1016/s0140-6736(10)60961-0

Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., . . . Bose, M. (2016). Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab, 117(3), 313-321. doi:10.1016/j.ymgme.2015.12.009

Brunetti-Pierri, N., & Scaglia, F. (2008). GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab, 94(4), 391-396. doi:10.1016/j.ymgme.2008.04.012

Canavero, I., Rifino, N., Montano, V., Pantoni, L., Gatti, L., Pollaci, G., . . . Bersano, A. (2022). Cognitive aspects of MELAS and CARASAL. Cereb Circ Cogn Behav, 3, 100139. doi:10.1016/j.cccb.2022.100139

Colver, A., Fairhurst, C., & Pharoah, P. O. (2014). Cerebral palsy. Lancet, 383(9924), 1240-1249. doi:10.1016/s0140-6736(13)61835-8

Darin, N., Oldfors, A., Moslemi, A. R., Holme, E., & Tulinius, M. (2001). The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol, 49(3), 377-383.

De Giorgis, V., & Veggiotti, P. (2013). GLUT1 deficiency syndrome 2013: current state of the art. Seizure, 22(10), 803-811. doi:10.1016/j.seizure.2013.07.003

El-Hattab, A. W., Almannai, M., & Scaglia, F. (1993a). Melas. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews((R)). Seattle (WA).

El-Hattab, A. W., Almannai, M., & Scaglia, F. (1993b). MELAS. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Elumalai, V., & Pasrija, D. (2025). Zellweger Spectrum Disorder. In StatPearls. Treasure Island (FL): StatPearls Publishing Copyright © 2025, StatPearls Publishing LLC.

Engelen, M., Kemp, S., de Visser, M., van Geel, B. M., Wanders, R. J., Aubourg, P., & Poll-The, B. T. (2012). X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis, 7, 51. doi:10.1186/1750-1172-7-51

Feigenbaum, A., Moore, R., Clarke, J., Hewson, S., Chitayat, D., Ray, P. N., & Stockley, T. L. (2004). Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Med Genet A, 124a(2), 142-147. doi:10.1002/ajmg.a.20334

Fowler, B., Froese, D. S., & Watkins, D. (2022). Disorders of CobalaminCobalamin disorders and Folate TransportFolate disorders and Metabolism. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 511-529). Berlin, Heidelberg: Springer Berlin Heidelberg.

Friedman, J. (1993). Sepiapterin Reductase Deficiency. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Friedman, J., Roze, E., Abdenur, J. E., Chang, R., Gasperini, S., Saletti, V., . . . Blau, N. (2012). Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol, 71(4), 520-530. doi:10.1002/ana.22685

Froese, D. S., & Baumgartner, M. R. (2022). Biotin-Responsive DisordersBiotin-responsive Disorders. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 501-510). Berlin, Heidelberg: Springer Berlin Heidelberg.

Furukawa, Y. (1993). GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Galarreta Aima, C. I., Shchelochkov, O. A., Jerves Serrano, T., & Venditti, C. P. (1993). Propionic Acidemia. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Gieselmann, V., & Krägeloh-Mann, I. (2010). Metachromatic leukodystrophy--an update. Neuropediatrics, 41(1), 1-6. doi:10.1055/s-0030-1253412

Goldman, I. D. (1993). FOLR1-Related Cerebral Folate Transport Deficiency. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Gomez-Ospina, N. (1993). Arylsulfatase A Deficiency. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., . . . McFarland, R. (2015). Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol, 77(5), 753-759. doi:10.1002/ana.24362

Graham, H. K., Rosenbaum, P., Paneth, N., Dan, B., Lin, J. P., Damiano, D. L., . . . Lieber, R. L. (2016). Cerebral palsy. Nat Rev Dis Primers, 2, 15082. doi:10.1038/nrdp.2015.82

Häberle, J., & Rubio, V. (2022). Disorders of the Urea CycleUrea Cycle disorders and Related Enzymes. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 391-405). Berlin, Heidelberg: Springer Berlin Heidelberg.

Hakami, W. S., Hundallah, K. J., & Tabarki, B. M. (2019). Metabolic and genetic disorders mimicking cerebral palsy. Neurosciences (Riyadh), 24(3), 155-163. doi:10.17712/nsj.2019.3.20190045

Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F., . . . Raymond, G. V. (2009). Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab, 97(3), 212-220. doi:10.1016/j.ymgme.2009.03.010

Johannes, L., Fu, C. Y., & Schwarz, G. (2022). Molybdenum Cofactor Deficiency in Humans. Molecules, 27(20). doi:10.3390/molecules27206896

Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., . . . Moser, H. W. (2001). ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat, 18(6), 499-515. doi:10.1002/humu.1227

Klepper, J., Scheffer, H., Elsaid, M. F., Kamsteeg, E. J., Leferink, M., & Ben-Omran, T. (2009). Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics, 40(5), 207-210. doi:10.1055/s-0030-1248264

Leach, E. L., Shevell, M., Bowden, K., Stockler-Ipsiroglu, S., & van Karnebeek, C. D. (2014). Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review. Orphanet J Rare Dis, 9, 197. doi:10.1186/s13023-014-0197-2

Lichter-Konecki, U., Caldovic, L., Morizono, H., Simpson, K., Ah Mew, N., & MacLeod, E. (1993). Ornithine Transcarbamylase Deficiency. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Manoli, I., Sloan, J. L., & Venditti, C. P. (1993). Isolated Methylmalonic Acidemia. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Manwaring, N., Jones, M. M., Wang, J. J., Rochtchina, E., Howard, C., Mitchell, P., & Sue, C. M. (2007). Population prevalence of the MELAS A3243G mutation. Mitochondrion, 7(3), 230-233. doi:10.1016/j.mito.2006.12.004

Meikle, P. J., Hopwood, J. J., Clague, A. E., & Carey, W. F. (1999). Prevalence of lysosomal storage disorders. Jama, 281(3), 249-254. doi:10.1001/jama.281.3.249

Mercimek-Andrews, S., & Salomons, G. S. (1993). Creatine Deficiency Disorders. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Mørkrid, L., Rowe, A. D., Elgstoen, K. B., Olesen, J. H., Ruijter, G., Hall, P. L., . . . Rinaldo, P. (2015). Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals. Clin Chem, 61(5), 760-768. doi:10.1373/clinchem.2014.235564

Nagy, A., Bley, A. E., & Eichler, F. (1993). Canavan Disease. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Nicoli, E. R., Annunziata, I., d'Azzo, A., Platt, F. M., Tifft, C. J., & Stepien, K. M. (2021). GM1 Gangliosidosis-A Mini-Review. Front Genet, 12, 734878. doi:10.3389/fgene.2021.734878

Nygaard, T. G., Takahashi, H., Heiman, G. A., Snow, B. J., Fahn, S., & Calne, D. B. (1992). Long-term treatment response and fluorodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann Neurol, 32(5), 603-608. doi:10.1002/ana.410320502

Orsini, J. J., Escolar, M. L., Wasserstein, M. P., & Caggana, M. (1993). Krabbe Disease. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Patterson, M. C., Vanier, M. T., Suzuki, K., Morris, J. A., Carstea, E., Neufeld, E. B., . . . Pentchev, P. G. (2019). Niemann-Pick Disease Type C: A Lipid Trafficking Disorder. In D. L. Valle, S. Antonarakis, A. Ballabio, A. L. Beaudet, & G. A. Mitchell (Eds.), The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Education.

Poorthuis, B. J., Wevers, R. A., Kleijer, W. J., Groener, J. E., de Jong, J. G., van Weely, S., . . . van Diggelen, O. P. (1999). The frequency of lysosomal storage diseases in The Netherlands. Hum Genet, 105(1-2), 151-156. doi:10.1007/s004399900075

Rafi, M. A., Luzi, P., Zlotogora, J., & Wenger, D. A. (1996). Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet, 97(3), 304-308. doi:10.1007/bf02185759

Rahman, S., Blok, R. B., Dahl, H. H., Danks, D. M., Kirby, D. M., Chow, C. W., . . . Thorburn, D. R. (1996). Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol, 39(3), 343-351. doi:10.1002/ana.410390311

Reiss, J., & Hahnewald, R. (2011). Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat, 32(1), 10-18. doi:10.1002/humu.21390

Rossler, L., Lemburg, S., Weitkämper, A., Thiels, C., Hoffjan, S., Nguyen, H. P., . . . Heyer, C. M. (2023). Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature. J Ultrasound, 26(4), 757-764. doi:10.1007/s40477-022-00667-2

Santer, R., & Klepper, J. (2022). Disorders of Glucose and Monocarboxylate Transporters. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 225-238). Berlin, Heidelberg: Springer Berlin Heidelberg.

Saudubray, J.-M., & García-Cazorla, Á. (2022). Clinical Approach to Inborn Errors of Metabolism in Paediatrics. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 3-123). Berlin, Heidelberg: Springer Berlin Heidelberg.

Scarpa, M., & Lampe, C. (1993). Mucopolysaccharidosis Type II. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Schiff, M., Brassier, A., & Dionisi-Vici, C. (2022). Branched-Chain Organic AciduriasBranched-chain Organic Acidurias/Acidaemias. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 369-389). Berlin, Heidelberg: Springer Berlin Heidelberg.

Steinberg, S. J., Raymond, G. V., Braverman, N. E., & Moser, A. B. (1993). Zellweger Spectrum Disorder. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Stöckler-Ipsiroglu, S., Mercimek-Andrews, S., & Salomons, G. S. (2022). Disorders of Creatine MetabolismCreatine MetabolismDisorders of Creatine Metabolism. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 239-245). Berlin, Heidelberg: Springer Berlin Heidelberg.

Sun, A., Crombez, E. A., & Wong, D. (1993). Arginase Deficiency. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Tang, M., Park, S. H., De Vivo, D. C., & Monani, U. R. (2019). Therapeutic strategies for glucose transporter 1 deficiency syndrome. Ann Clin Transl Neurol, 6(9), 1923-1932. doi:10.1002/acn3.50881

van der Crabben, S. N., & de Koning, T. J. (1993). Serine Deficiency Disorders. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

van Spronsen, F. J., Blau, N., Harding, C., Burlina, A., Longo, N., & Bosch, A. M. (2021). Phenylketonuria. Nat Rev Dis Primers, 7(1), 36. doi:10.1038/s41572-021-00267-0

Vanier, M. T. (2010). Niemann-Pick disease type C. Orphanet J Rare Dis, 5, 16. doi:10.1186/1750-1172-5-16

Vanier, M. T., Caillaud, C., & Levade, T. (2022). Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Sphingolipid MetabolismdisordersNeuronal Ceroid LipofuscinosesNeuronal Ceroid-Lipofuscinosesdisorders. In J.-M. Saudubray, M. R. Baumgartner, Á. García-Cazorla, & J. Walter (Eds.), Inborn Metabolic Diseases: Diagnosis and Treatment (pp. 735-764). Berlin, Heidelberg: Springer Berlin Heidelberg.

Vanier, M. T., & Millat, G. (2003). Niemann-Pick disease type C. Clin Genet, 64(4), 269-281. doi:10.1034/j.1399-0004.2003.00147.x

Wenger, D. A., Escolar, M. L., Luzi, P., & Rafi, M. A. (2019). Krabbe disease (Globoid Cell Leukodystrophy). In D. L. Valle, S. Antonarakis, A. Ballabio, A. L. Beaudet, & G. A. Mitchell (Eds.), The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Education.

Wolf, B. (1993). Biotinidase Deficiency. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, & A. Amemiya (Eds.), GeneReviews(®). Seattle (WA): University of Washington, Seattle

Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Wongkittichote, P., Ah Mew, N., & Chapman, K. A. (2017). Propionyl-CoA carboxylase - A review. Mol Genet Metab, 122(4), 145-152. doi:10.1016/j.ymgme.2017.10.002

Zavala, M., Castillo, V., Gonzalez, M., & Castillo, S. (2019). [GLUT-1 deficiency syndrome]. Rev Neurol, 69(4), 178-179. doi:10.33588/rn.6904.2019126

Gelecek

25 Şubat 2026

Lisans

Lisans