Radiance Research AcademyInternational Journal of Current Research and Review2231-21960975-52411715EnglishN2025August15Healthcare A Case of Adult-Onset Adrenoleukodystrophy with Rare Genetic Mutation     English0103Munish KumarEnglish Neha KumariEnglish Raj PrateekEnglish Nazneen PraweenEnglish Introduction: Adrenoleukodystrophy (ALD) is an X-linked disorder with a heterogeneous clinical presentation. It is caused by mutations in the ABCD1 gene, resulting in the accumulation of very long-chain fatty acids (VLCFAs). Case Report: A 30-year-old male presented with gradually progressive cognitive decline with extrapyamidal involvement. Magnetic resonance imaging revealed white matter signal abnormalities, and genome sequencing identified a rare pathogenic variant in the ABCD1 gene, confirming the diagnosis of ALD. Discussion: Our case presented with gradually progressive psychiatric symptoms followed by cognitive, interpersonal and social decline with extrapyramidal involvement. On the basis of MRI brain findings and rare genetic mutation on whole exome sequencing, diagnosis of ALD made. Conclusion: Adult onset ALD presented with uncommon extrapyramidal symptoms and rare genetic mutation. EnglishAdrenoleukodystrophy, Adult-onset, Rare genetic mutation, ABCD1 Gene, MRI brain findings, Psychiatric symptomshttp://ijcrr.com/abstract.php?article_id=4865http://ijcrr.com/article_html.php?did=4865 1. Siemerling E, Creutzfeldt HG. Bronzekrankheit und sklerosierende Encephalomyelitis. Arch Psychiatr Nervenkrankh. 1923;68:217–244 2. Blow ME. Melanodermic type leucodystrophy (adrenoleukodystrophy). In: Vinken PJ, Bruyn GW, editors. Neurodystrophies and neurolipidoses. Amsterdam: North Holland Publishing Co; 1970 Aug; 8:128–133. 3. Igarashi M, Schaumberg HH, Powers JM, Kishmoto Y, Kolodny E, Suzuki K. Fatty acid abnormality in adrenoleukodystrophy. J Neurochem. 1976 Apr;26:851–60. PMID: 965973. 4. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, et al. Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001 Apr; 49:512–17. PMID: 11310629. 5. Van Geel BM, Assies J, Wanders RJ, Barth PD. X-linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. J Neurol Neurosurg Psychiatry. 1997 Jul;63:4–14. PMID: 9221959. 6. van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy. Ann Neurol. 2001 Feb; 49(2):186–94.  PMID: 11220738 7. Renaud D. Adult-onset leukoencephalopathies. Continuum. 2016 Apr;22(2):559–78. 8. Griffin JW, Goren E, Schaumburg H, Engel WK, Loriaux L. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. Clinical and endocrinologic aspects. Neurology. 1977 Dec; 27:1107–13. doi: 10.1212/wnl.27.12.1107. 9. Kitchin W, Cohen-Cole SA, Mickel SF. Adrenoleukodystrophy: frequency of presentation as a psychiatric disorder. Biol Psychiatry. 1987 Nov;22(11):1375–87. doi: 10.1016/0006- 3223(87)90072-2. PMID: 3311181. 10. Wiesinger C, Eichler FS, Berger J. The genetic landscape of Xlinked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 2015 May;8:109. 11. Chen Y, Polara F, Pillai A. Rare variability in adrenoleukodystrophy: a case report. J Med Case Rep. 2018 Jan;12(1):182. 12. Berget SM. Exon recognition in vertebrate splicing. J Biol Chem. 1995 Feb 10;270(6):2411–4. doi: 10.1074/jbc.270.6.2411. PMID: 7852296. 13. Zheng F, Lin Z, Hu Y, Shi X, Zhao Q, Lin Z. Identification of a novel non-canonical splice-site variant in ABCD1. J Clin Med. 2023 Jan 6;12(2):473. doi: 10.3390/jcm12020473. PMID: 36675402; PMCID: PMC9863105. 14. Bougnères P, Le Stunff C. Revisiting the Pathogenesis of XLinked Adrenoleukodystrophy. Genes. 2025 May;16(5):590. doi: 10.3390/genes16050590. 15. Luda E, Barisone MG. Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study. Neurol Sci. 2001 Feb;22(1):21-5. doi: 10.1007/s100720170032. PMID: 11487187.

Radiance Research AcademyInternational Journal of Current Research and Review2231-21960975-52411715EnglishN2025August15Healthcare The Impact of Iron Deficiency in Professional Endurance Athletes - A Review     English0409Anna ZdzieboEnglish Anna BieniaszEnglish Katarzyna ZdziebloEnglish Maria SitkoEnglish Dominika StolarczykEnglish Aleksandra BakEnglish Igor BiernackiEnglish Katarzyna AgopsowiczEnglish Katarzyna BlicharzEnglish Piotr MojzeszEnglish Iron plays a crucial role in oxygen transport and energy production processes, making it an especially important micronutrient for endurance athletes. Iron deficiency, both overt (iron-deficiency anemia) and latent (low ferritin levels with normal hemoglobin), can lead to impaired physical performance, decreased maximal oxygen uptake (VO2 max), fatigue, and prolonged recovery time. Athletes—especially women, long-distance runners, and those undergoing intense training are particularly vulnerable to iron deficiency due to increased losses (e.g., via sweat, gastrointestinal microbleeds, menstruation) and insufficient dietary intake. This paper is a review of the latest journals and scientific articles and discusses the mechanisms by which iron deficiency affects athletic performance, diagnostic methods, as well as prevention and treatment strategies. The importance of individualized ap proaches and monitoring of iron levels is emphasized in the context of optimizing athletic performance and health. English“Iron, ” “Iron deficiency, ” “Iron deficiency in endurance athletes, ” “Iron metabolism”, ” ‘Iron deficiency treatment”, athletic performance and healthhttp://ijcrr.com/abstract.php?article_id=4866http://ijcrr.com/article_html.php?did=4866 1. Ganz T, Nemeth E. Iron metabolism: interactions with normal and disordered erythropoiesis. Cold Spring Harb Perspect Med. 2012 May;2(5):a011668. doi: 10.1101/cshperspect.a011668. PMID: 22553501; PMCID: PMC3331689. 2. Peeling P, Dawson B, Goodman C, Landers G, Trinder D. Ath letic induced iron deficiency: new insights into the role of in flammation, cytokines and hormones. Eur J Appl Physiol. 2008 Jul;103(4):381-91. doi: 10.1007/s00421-008-0726-6. PMID: 18365240. 3. Hallberg L, Rossander L, Skånberg AB. Phytates and the inhibi tory effect of bran on iron absorption in man. Am J Clin Nutr. 1987 May;45(5):988-96. doi: 10.1093/ajcn/45.5.988. PMID: 3034044. 4. Gulec S, Anderson GJ, Collins JF. Mechanistic and regulatory aspects of intestinal iron absorption. Am J Physiol Gastrointest Liver Physiol. 2014 Aug 15;307(4):G397-409. doi: 10.1152/ ajpgi.00348.2013. Epub 2014 Jul 3. PMID: 24994858; PMCID: PMC4137115. 5. Collins JF, Anderson GJ. Molekularne mechanizmy transportu ?elaza w jelitach. W: Physiology of the Gastrointestinal Tract (5. wyd.). Nowy Jork, NY: Elsevier, 2012. 6. Gaudin C, Zerath E, Guezennec CY. Gastric lesions secondary to long-distance running. Dig Dis Sci. 1990 Oct;35(10):1239 43. doi: 10.1007/BF01536413. PMID: 2209292. 7. Peters HP, De Vries WR, Vanberge-Henegouwen GP, Akker mans LM. Potential benefits and hazards of physical activity and exercise on the gastrointestinal tract. Gut. 2001 Mar;48(3):435 9. doi: 10.1136/gut.48.3.435. PMID: 11171839; PMCID: PMC1760153. 8. Streuli, R. A. (2008). Ferrum bonum et laudabile (lucrosumque). Schweizerisches Medizin-Forum, 8(32), 563. doi. 10.4414/ smf.2008.06550 9. Jones GR, Newhouse I. Sport-related hematuria: a review. Clin J Sport Med. 1997 Apr;7(2):119-25. doi: 10.1097/00042752 199704000-00008. PMID: 9113428. 10. Miller BJ, Pate RR, Burgess W. Foot impact force and intravas cular hemolysis during distance running. Int J Sports Med. 1988 Feb;9(1):56-60. doi: 10.1055/s-2007-1024979. PMID: 3366521. 11. Ganz T. Hepcidin, a key regulator of iron metabolism and medi ator of anemia of inflammation. Blood. 2003 Aug 1;102(3):783 8. doi: 10.1182/blood-2003-03-0672. Epub 2003 Mar 27. PMID: 12663437. 12. Radosz A, Obuchowicz A. The role of hepcidin in regulating iron homeostasis in selected diseases. Dev Period Med. 2019;23(2):137 141. doi: 10.34763/devperiodmed.20192302.137141. PMID: 31280251; PMCID: PMC8522373. 13. Stein J, Dignass AU. Management of iron deficiency anemia in inflammatory bowel disease - a practical approach. Ann Gas troenterol. 2013;26(2):104-113. PMID: 24714874; PMCID: PMC3959949. 14. Kumar A, Sharma E, Marley A, Samaan MA, Brookes MJ. Iron deficiency anaemia: pathophysiology, assessment, practical management. BMJ Open Gastroenterol. 2022 Jan;9(1):e000759. doi: 10.1136/bmjgast-2021-000759. PMID: 34996762; PMCID: PMC8744124. 15. Clénin G, Cordes M, Huber A, Schumacher YO, Noack P, Scales J, et.el. Iron deficiency in sports - definition, influence on perfor mance and therapy. Swiss Med Wkly. 2015 Oct 29;145:w14196. doi: 10.4414/smw.2015.14196. PMID: 26512429. 16. Brugnara C, Laufer MR, Friedman AJ, Bridges K, Platt O. Reticulocyte hemoglobin content (CHr): early indicator of iron deficiency and response to therapy. Blood. 1994 May 15;83(10):3100-1. PMID: 8180408. 17. Thomas C, Thomas L. Biochemical markers and hematologic in dices in the diagnosis of functional iron deficiency. Clin Chem. 2002 Jul;48(7):1066-76. PMID: 12089176. 18. Monsen ER. Iron nutrition and absorption: dietary factors which impact iron bioavailability. J Am Diet Assoc. 1988 Jul;88(7):786 90. PMID: 3290310. 19. Hercberg S, Preziosi P, Galan P. Iron deficiency in Europe. Public Health Nutr. 2001 Apr;4(2B):537-45. doi: 10.1079/ phn2001139. PMID: 11683548. 20. Miret S, Simpson RJ, McKie AT. Physiology and molecular bi ology of dietary iron absorption. Annu Rev Nutr. 2003;23:283 301. doi: 10.1146/annurev.nutr.23.011702.073139. Epub 2003 Feb 26. PMID: 12626689. 21. Cancelo-Hidalgo MJ, Castelo-Branco C, Palacios S, Haya Palazuelos J, Ciria-Recasens M, Manasanch J, et.el. Toler ability of different oral iron supplements: a systematic re view. Curr Med Res Opin. 2013 Apr;29(4):291-303. doi: 10.1185/03007995.2012.761599. Epub 2013 Feb 6. PMID: 23252877. 22. DellaValle DM. Iron supplementation for female athletes: effects on iron status and performance outcomes. Curr Sports Med Rep. 2013 Jul-Aug;12(4):234-9. doi: 10.1249/ JSR.0b013e31829a6f6b. Erratum in: Curr Sports Med Rep. 2013 Sep-Oct;12(5):349. PMID: 23851410. 23. Zimmermann MB, Hurrell RF. Nutritional iron deficiency. Lan cet . 2007;370(9586):511–520 24. Ganz T. Molecular control of iron transport. J Am Soc Nephrol. 2007 Feb;18(2):394-400. doi: 10.1681/ASN.2006070802. Epub 2007 Jan 17. PMID: 17229910. 25. Thomas C, Thomas L. Biochemical markers and hematologic in dices in the diagnosis of functional iron deficiency. Clin Chem. 2002 Jul;48(7):1066-76. PMID: 12089176. 26. Taylor C, Rogers G, Goodman C, Baynes RD, Bothwell TH, Bezwoda WR, et al. Hematologic, iron-related, and acute phase protein responses to sustained strenuous exercise. J Appl Physiol (1985). 1987 Feb;62(2):464-9. doi: 10.1152/jap pl.1987.62.2.464. PMID: 2435698. 27. Peeling P, Dawson B, Goodman C, Landers G, Trinder D. Ath letic induced iron deficiency: new insights into the role of in flammation, cytokines and hormones. Eur J Appl Physiol. 2008 Jul;103(4):381-91. doi: 10.1007/s00421-008-0726-6. PMID: 18365240. 28. Peeling P. Exercise as a mediator of hepcidin activity in athletes. Eur J Appl Physiol. 2010 Nov;110(5):877-83. doi: 10.1007/ s00421-010-1594-4. Epub 2010 Aug 10. PMID: 20697906. htt ps://pubmed.ncbi.nlm.nih.gov/20697906/ 29. Davies KJ, Maguire JJ, Brooks GA, Dallman PR, Pack er L. Muscle mitochondrial bioenergetics, oxygen supply, and work capacity during dietary iron deficiency and reple tion. Am J Physiol. 1982 Jun;242(6):E418-27. doi: 10.1152/ ajpendo.1982.242.6.E418. PMID: 7091311. 30. Finch CA, Miller LR, Inamdar AR, Person R, Seiler K, Mackler B. Iron deficiency in the rat. Physiological and biochemical stud ies of muscle dysfunction. J Clin Invest. 1976 Aug;58(2):447-53. doi: 10.1172/JCI108489. PMID: 956378; PMCID: PMC333200.