Diverse Expression of Alkaptonuria: A Case Series
DOI:
https://doi.org/10.51253/pafmj.v76i6.10969Keywords:
Alkaptonuria, Gas Chromatography-Mass Spectrometry, Homogentisic AcidAbstract
Alkaptonuria is a rare autosomal metabolic disorder that predominately affects the male population. In infants, it is usually asymptomatic except darkening of urine on exposure, while in adults it starts appearing in 3rd and 4th decade of life. We received 4 cases of this rare disease at the Department of Toxicology, Armed Forces Institute of Pathology Rawalpindi, Pakistan, from Jan 2020 to Feb 2023 presenting in different age groups ranging from early childhood to middle age with a common clinical finding of darkening of urine on prolonged standing. Urine samples of cases were analyzed by gas chromatography-mass spectrometry (GC-MS) and matched with the reference library of GC-MS for the peak of homogentisic acid (HGA) on urine organic acid (UOA).
Downloads
References
1. Craide FH, Fonseca JSBM, Mariano PC, Fernandez NM, Castro CGC, Mene YSL. Alkaptonuria – Case report. A Bras Dermatol 2014; 89(5): 799-801.
https://doi.org/10.1590/abd1806-4841.20143052
2. Fernades john, JSaudubray J-M, Berghe Gvd, Walter John H. inborn Metabolic diseases 4th Editioned 2006. Springer 2012 [Accessed 25th April 2024]. Available from:
https://link.springer.com/book/10.1007/978-3-662-63123-2
3. Datta AK, Mandal S, Dasgupta A, Ghosh TK. Alkaptonuria diagnosed in a 4-month-old baby girl: A case report. Cases J 2008; 1: 308.
https://doi.org/10.1186/1757-1626-1-308
4. Ranganath LR, Khedr M, Mistry A, Vinjamuri S, Gallagher JA. Treatment of osteoporotic fractures in alkaptonuria by teriparatide stimulates bone formation and decreases fracture rate–a report of two cases. Bone Rep 2021; 15(1): 101151.
https://doi.org/10.1016/j.bonr.2021.101151
5. Amaobi RN, Nnodim J. Advances in Mass Spectrometry for the Diagnosis of Inborn Errors of Metabolism: Recent Developments, Clinical Applications, and Future Perspectives. ICON J App Med Sci 2026; 2(8): 1-8.
6. Khan AH, Afroze B, Majid H, Zaidi Y, Jamil A, Jafri L. Musculoskeletal manifestations in alkaptonuria: A cross-sectional study. Medicine 2021; 100(51): e28241.
https://doi.org/10.1097/MD.0000000000028241
7. Millucci L, Ghezzi L, Paccagnini E, Giorgetti G, Viti C, Braconi D, et al. Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient. Mediator Inflam 2014: 258471.
https://doi.org/10.1155/2014/258471
8. Wolffenbuttel BHR, Heiner-Fokkema MR, van Spronsen FJ. Preventive use of nitisinone in alkaptonuria. Orphanet J Rare Dis 2021; 16: 343.
https://doi.org/10.1186/s13023-021-01977-0
9. Polat HB, Teslime AY. A Two alkaptonuria case diagnosed at elderly patient. DAHUDER Med J 2021; 1(1): 22-24.
10. Al-Sarayreh SA, Al-Tarawneh IN, Al-Sbou MS, Albatayneh EM, Al-Shuneigat JM. Measurements of homogentisic acid levels in alkaptonuria patients using an optimized and validated gas chromatography method/ mass spectrometry. Jordan J Biological Sci 2014; 7(4): 195-198.
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Maria Riaz, Muhammad Usman Munir, Muhammad Qaiser Alam Khan, Nayab Zehra, Muhammad Anwar, Nisar Ahmed
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
