Journal articles: 'Alkaptonuria'

1

Tharini, GK, Vidhya Ravindran, N. Hema, D. Prabhavathy, and B. Parveen. "Alkaptonuria." Indian Journal of Dermatology 56, no. 2 (2011): 186. http://dx.doi.org/10.4103/0019-5154.80415.

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Bassily, Emmanuel, M. Cody O'Dell, Brad Homan, and Christopher Wasyliw. "Alkaptonuria." Orthopedics 39, no. 4 (May 9, 2016): e810-e813. http://dx.doi.org/10.3928/01477447-20160503-03.

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Islam, Md Nazrul, SM Kamal, Sk Amir Hossain, and Sirajul Islam. "Alkaptonuria." Bangladesh Medical Journal Khulna 49, no. 1-2 (March 7, 2017): 37–39. http://dx.doi.org/10.3329/bmjk.v49i1-2.31825.

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Alkaptonuria is a rare metabolic autosomal recessive disorder. It occurs due to lack of an enzyme that results in deposition of homogentisic acid in various tissues. A male patient of 45 years presented with back pain for 20 years and multiple joint pain for 10 years. Patient has multiple nodules in both pinnae and pigmentation in both sclerae. His urine turns black upon standing. These findings are compatible with the diagnosis of Alkaptonuria.Bang Med J (Khulna) 2016; 49 : 37-39

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4

Indiran, Venkatraman, Dillibabu Ethiraj, Kanakaraj Kannan, and ThirumalasettyRamachandra Prasad. "Alkaptonuria." Indian Journal of Rheumatology 13, no. 3 (2018): 209. http://dx.doi.org/10.4103/injr.injr_67_18.

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5

Brenton, D. P., and S. Krywawych. "Alkaptonuria." Clinics in Rheumatic Diseases 12, no. 3 (December 1986): 755–69. http://dx.doi.org/10.1016/s0307-742x(21)00578-6.

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6

Mistry, Jemma B., Marwan Bukhari, and Adam M. Taylor. "Alkaptonuria." Rare Diseases 1, no. 1 (January 2013): e27475. http://dx.doi.org/10.4161/rdis.27475.

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7

Harper, P. S. "Alkaptonuria." Journal of Medical Genetics 22, no. 2 (April 1, 1985): 159. http://dx.doi.org/10.1136/jmg.22.2.159.

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8

Thapa, Manish, M. Bhatia, and V. K. Maurya. "Alkaptonuria." Medical Journal Armed Forces India 74, no. 4 (October 2018): 394–96. http://dx.doi.org/10.1016/j.mjafi.2017.06.006.

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9

Carlesimo, M., P. Bonaccorsi, G. Tamburrano, I. Carboni, A. Parisi, and S. Calvier. "Alkaptonuria." Dermatology 199, no. 1 (1999): 70–71. http://dx.doi.org/10.1159/000018186.

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10

El-Sayed Ahmed, Magdy M., Omar Hussain, David A. Ott, and Muhammad Aftab. "Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis." Seminars in Cardiothoracic and Vascular Anesthesia 21, no. 4 (July 14, 2017): 364–66. http://dx.doi.org/10.1177/1089253217720284.

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Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. She underwent an uneventful aortic valve replacement. She was discharged home 10 days postoperatively.

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11

GARROD, ARCHIBALD E. "ABOUT ALKAPTONURIA." Endocrinologist 2, no. 5 (September 1992): 288–90. http://dx.doi.org/10.1097/00019616-199209000-00004.

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12

Farzannia, Akbar, Ghaffar Shokouhi, and Shahram Hadidchi. "Alkaptonuria and lumbar disc herniation." Journal of Neurosurgery: Spine 98, no. 1 (January 2003): 87–89. http://dx.doi.org/10.3171/spi.2003.98.1.0087.

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✓ Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. Alkaptonuria was diagnosed after discectomy. Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The symptoms in the three patients disappeared after surgery and no symptoms were demonstrated on follow-up examination.

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13

Steven, R. A., A. J. Kinshuck, M. S. McCormick, and L. R. Ranganath. "ENT manifestations of alkaptonuria: report on a case series." Journal of Laryngology & Otology 129, no. 10 (October 2015): 1004–8. http://dx.doi.org/10.1017/s0022215115002315.

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AbstractBackground:Alkaptonuria is an inborn error of metabolism. It is a multisystem disease with characteristic ENT manifestations. This paper reports, for the first time, the ENT findings in a cohort of alkaptonuria patients.Method:Patients attending the National Centre for Alkaptonuria (Royal Liverpool and Broadgreen University Hospitals NHS Trust) underwent a full ENT assessment.Results:Eighteen of the 20 patients (90 per cent) had an ENT sign or symptom. These included discolouration of the pinna, cerumen, nasal septum and pharynx.Conclusion:Discolouration of cerumen may occur before 30 years of age and may therefore be an important early clinical sign. Further audiological assessment of patients is needed to clarify if an association exists between alkaptonuria and hearing loss. Alkaptonuria is a condition that could present to the otolaryngologist. Successful early diagnosis and referral to a specialist centre is essential so that patients can be offered disease-modifying therapy.

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14

Wiwanitkit, Viroj. "Diagnosis of alkaptonuria." Indian Journal of Otology 18, no. 1 (2012): 44. http://dx.doi.org/10.4103/0971-7749.98306.

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15

Phatak, SV, PK Kolwadkar, TJ Hemnani, MS Phatak, and JT Hemnani. "Pictorial essay: Alkaptonuria." Indian Journal of Radiology and Imaging 16, no. 4 (2006): 573. http://dx.doi.org/10.4103/0971-3026.32272.

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16

TUNÇEZ AKYÜREK, Fatma, Özlem BİLGİÇ, Gülcan SAYLAM KURTİPEK, İlknur ALBAYRAK GEZER, and Hilmi Cevdet ALTINYAZAR. "Alkaptonuria: Case Report." Turkiye Klinikleri Journal of Dermatology 25, no. 3 (2015): 103–7. http://dx.doi.org/10.5336/dermato.2014-42697.

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17

Craide, Fernanda Helena, Juliana Salvini Barbosa Martins da Fonseca, Priscila Coelho Mariano, Natalia Monteiro Fernandez, Carlos Gustavo Carneiro de Castro, and Yuri de Souza Lima Mene. "Alkaptonuria - Case report." Anais Brasileiros de Dermatologia 89, no. 5 (September 2014): 799–801. http://dx.doi.org/10.1590/abd1806-4841.20143052.

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18

Khatu, SwapnaS, YuvrajE More, Divyank Vankawala, Deepali Chavan, and NeetaR Gokhale. "Alkaptonuria: Case report." Medical Journal of Dr. D.Y. Patil University 8, no. 1 (2015): 84. http://dx.doi.org/10.4103/0975-2870.148860.

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19

Mwambingu, Thomas L., and Geoff Hide. "Case 208: Alkaptonuria." Radiology 272, no. 2 (August 2014): 608–11. http://dx.doi.org/10.1148/radiol.14121842.

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20

Zatkova, Andrea, Lakshminarayan Ranganath, and Ludevit Kadasi. "Alkaptonuria: Current Perspectives." Application of Clinical Genetics Volume 13 (January 2020): 37–47. http://dx.doi.org/10.2147/tacg.s186773.

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21

Anikster, Yair, William L. Nyhan, and William A. Gahl. "NTBC and Alkaptonuria." American Journal of Human Genetics 63, no. 3 (September 1998): 920–21. http://dx.doi.org/10.1086/302027.

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22

Laxon, S., L. Ranganath, and O. Timmis. "Living with alkaptonuria." BMJ 343, sep29 2 (September 29, 2011): d5155. http://dx.doi.org/10.1136/bmj.d5155.

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23

Millucci, Lia, Daniela Braconi, Giulia Bernardini, Pietro Lupetti, Josef Rovensky, Lakshminaryan Ranganath, and Annalisa Santucci. "Amyloidosis in alkaptonuria." Journal of Inherited Metabolic Disease 38, no. 5 (April 14, 2015): 797–805. http://dx.doi.org/10.1007/s10545-015-9842-8.

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24

Millucci, Lia, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, et al. "Angiogenesis in alkaptonuria." Journal of Inherited Metabolic Disease 39, no. 6 (September 26, 2016): 801–6. http://dx.doi.org/10.1007/s10545-016-9976-3.

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25

Denisova, E. V., and A. V. Kuzin. "Ophthalmological Manifestations of Alkaptonuria." Ophthalmology in Russia 19, no. 1 (April 8, 2022): 118–22. http://dx.doi.org/10.18008/1816-5095-2022-1-118-122.

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Alkaptonuria is rare autosomal recessive multisystem disease, caused by mutations in the homogentisine oxidase gene, which leads to the deposition of metabolites of homogentisic acid in organs and tissues (ochronosis).The purpose: to study spectrum of ophthalmic manifestations of alkaptonuria in Russian cohort of patients of different ages.Material and methods. Ophthalmological examination of 9 patients: 5 adults aged from 39 to 64 years and 4 children aged from 3 to 6 years with confirmed diagnosis of “alkaptonuria” was performed.Results. In all adult patients bilateral brown-black scleral pigmentation and yellow-brown deposits in the conjunctiva in the region of the palpebral fissure were detected paralymbally, the severity of which correlated with age, tortuosity and vasodilation of the conjunctiva in areas of deposits. In 1 out of 4 children minimal deposits of yellow pigment were found in the conjunctiva of the limb. In patients older than 60 years typical small brownish deposits were observed in the cornea near the limb in the region of the palpebral fissure.Conclusion. Eye changes are one of the most common clinical manifestations of alkaptonuria. Typical manifestations are the sclera’s pigmentation, conjunctiva and cornea in the limb. Ophthalmological examination is non-invasive informative method that can help in early diagnosis, differential diagnostics, assessment of the dynamics of the disease and the effectiveness of the therapy.

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26

Menon, I. Aravind, Suruj D. Persad, Herbert F. Haberman, Prasanta K. Basu, Joseph F. Norfray, Christopher C. Felix, and B. Kalyanaraman. "Characterization of the pigment from homogentisic acid and urine and tissue from an alkaptonuria patient." Biochemistry and Cell Biology 69, no. 4 (April 1, 1991): 269–73. http://dx.doi.org/10.1139/o91-041.

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When urine samples from alkaptonuria patients are allowed to stand, they turn black, presumably owing to the oxidation of homogentisic acid to a melanin-like substance. We report the characterization of the pigments formed by polymerization of (a) the components in the urine from a patient with alkaptonuria and (b) homogentisic acid. The absorption spectra and electron spin resonance signals of these pigments are similar to those of eumelanins. Irradiation of the pigments with nitroblue tetrazolium caused reduction of the tetrazolium; this was partially inhibited by superoxide dismutase. Irradiation of Ehrlich ascites carcinoma cells with the pigments from homogentisic acid or urine caused cell lysis. Since this lysis was inhibited by catalase, we have concluded that it was mediated by H2O2. A similar pigment was also extracted from the tissue from an alkaptonuria patient. It is suggested that the degeneration of tissue in vivo may be due to the deposition of melanin-like pigments in the tissues, probably in combination with metal ions.Key words: alkaptonuria, homogentisic acid, pigmentation, melanin, photosensitization.

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27

Shah, Anand, Andrew Son, and Payam Salehi. "Alkaptonuric ochronosis of the carotid artery." SAGE Open Medical Case Reports 8 (January 2020): 2050313X2091541. http://dx.doi.org/10.1177/2050313x20915411.

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Alkaptonuria is a rare autosomal-recessive metabolic disorder of tyrosine degradation which results in elevated levels of circulating homogentisic acid. Ochronosis occurs when homogentisic acid polymerizes and deposits in connective tissue. Ochronotic lesions in the carotid arteries have not been described. In this report, we describe a 65-year-old man with alkaptonuria, with hypertension and hyperlipidemia, who underwent an uneventful carotid endarterectomy for an asymptomatic high-grade internal carotid artery stenosis. Histology revealed homogentisic acid deposits as black-brownish areas in the intima. He was noted to have an impressive heavily brown-black pigmented discoloration of the carotid plaque. Cardiovascular involvement is a rare consequence of alkaptonuria and is manifested by pigment deposition at the areas influenced by shear stress and turbulence.

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28

Sagit, M., M. Uludag, and I. San. "An unusual dark pigmentation on the tympanic membrane." Journal of Laryngology & Otology 125, no. 10 (August 5, 2011): 1059–61. http://dx.doi.org/10.1017/s0022215111001903.

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AbstractObjective:To report an extremely rare case of dark pigmentation on the tympanic membrane due to alkaptonuria, and to discuss the probable association between this condition and hearing loss.Case report:A 58-year-old man with alkaptonuria was admitted with tinnitus and hearing loss in both ears. Physical examination showed bluish-black pigmentation on the helixes of both ears and both sclerae. Otoscopic examination revealed dark discolouration of both tympanic membranes. Audiological evaluation revealed mixed high frequency hearing loss in both ears. Tympanometric examination revealed type A tympanograms bilaterally, and absence of acoustic reflexes both ipsilaterally and contralaterally. Computed tomography of the temporal bones revealed no abnormality.Conclusion:Clinicians should consider alkaptonuria in the differential diagnosis of patients with abnormal tympanic membrane pigmentation and hearing loss.

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29

Khalil, Raida, Dema Ali, Nesrin Mwafi, Arwa Alsaraireh, Loiy Obeidat, Eman Albsoul, and Ibrahim Al Sbou’. "Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan." BioMed Research International 2021 (March 11, 2021): 1–8. http://dx.doi.org/10.1155/2021/1515641.

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Background. Metabolic disorder alkaptonuria is an autosomal recessive disorder caused by mutations in the HGD gene, and a deficiency HGD enzyme activity results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. Methods. We clinically evaluated 18 alkaptonuria patients (age range, 3 to 60 years) from four unrelated families. Furthermore, 11 out of 18 alkaptonuria patients and 7 unaffected members were enrolled for molecular investigations by utilizing Sanger sequencing to identify variants of the 14 exons of HGD gene. Results. We found that the seven patients from the 4 unrelated families carried a recurrent pathogenic missense variant (c.365C>T, p. Ala122Val) in exon 6 of HGD gene. The variant was fully segregated with the disease in affected family members while the other unaffected family members were heterozygous carriers for this variant. Additionally, the clinical features were fully predicted with alkaptonuria disorder. Conclusion. In this study, we confirmed that the most common variants in Jordanian AKU patients was c.365C>T, p. Ala122Val in exon 6 of HGD gene. Additionally, we correlated the clinical and genetic features of AKU patients at various ages (3-60 years).

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30

Damarla, Nirupama, Prathima Linga, Mallika Goyal, SanjayReddy Tadisina, GSatyanarayana Reddy, and Hymavathi Bommisetti. "Alkaptonuria: A case report." Indian Journal of Ophthalmology 65, no. 6 (2017): 518. http://dx.doi.org/10.4103/ijo.ijo_337_16.

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31

Yasri, Sora, and Viroj Wiwanitkit. "ß-thalassemia and alkaptonuria." Indian Journal of Human Genetics 20, no. 1 (2014): 97. http://dx.doi.org/10.4103/0971-6866.132772.

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32

Verma, ShyamB. "Early detection of alkaptonuria." Indian Journal of Dermatology, Venereology and Leprology 71, no. 3 (2005): 189. http://dx.doi.org/10.4103/0378-6323.16236.

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33

Laurent, James P., and Sean D. Galvin. "Black Aorta from Alkaptonuria." AORTA 09, no. 04 (August 2021): 165–66. http://dx.doi.org/10.1055/s-0041-1729916.

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AbstractA-76-year old male with a past history of alkaptonuria with ochronosis (homogentisic acid deposition in tissues) had symptomatic aortic stenosis. Surgical replacement of the valve was undertaken, and he was noted to have a severely pigmented and porcelain aorta.

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34

Khan, Aysha Habib, Bushra Afroze, Hafsa Majid, Yusra Zaidi, Azeema Jamil, and Lena Jafri. "Musculoskeletal manifestations in Alkaptonuria." Medicine 100, no. 51 (December 23, 2021): e28241. http://dx.doi.org/10.1097/md.0000000000028241.

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35

Trotsenko, V. V., V. I. Nuzhdin, T. P. Popova, S. V. Kagramanov, O. A. Kudinov, and A. S. Bavashev. "Alkaptonuria and ochronotic arthropathy." N.N. Priorov Journal of Traumatology and Orthopedics 9, no. 1 (February 2, 2022): 63–66. http://dx.doi.org/10.17816/vto97136.

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Four cases of operative treatment for ochronosis arthropathy in patients with alcaptonuria are presented. In 3 patients hip joint and in 1 patient knee joint were affected. Prior to surgery all patients were treated conservatively. Two patients successfully underwent total hip replacement. Intertrochanteric femur osteotomy was performed in 1 case. In the fourth patient arthroplasty of knee joint with allograft from rib cartilage failed due to suppurative arthritis resulted in joint resection and arthrodesis.

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36

Gilmullin, I. F., and A. Sh Latypov. "A case of alkaptonuria." Kazan medical journal 68, no. 1 (February 15, 1987): 63–64. http://dx.doi.org/10.17816/kazmj95911.

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Insignificant population frequency of alkaptonuria - 3-5 per 1,000,000 (H.P. Bochkov et al., 1984), autosomal recessive character of inheritance, which often does not give family accumulation, late development of clinical symptoms (after 40 years) lead to that practical doctors, rarely meeting with the specified pathology and having no indication of family or congenital character of the disease, find it difficult to make a diagnosis.

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37

VLAY, STEPHEN C. "Alkaptonuria and Aortic Stenosis." Annals of Internal Medicine 104, no. 3 (March 1, 1986): 446. http://dx.doi.org/10.7326/0003-4819-104-3-446_1.

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38

Akeda, Koji, Yuichi Kasai, Eiji Kawakita, Yoshihiro Matsumura, Toshibumi Kono, Tetsuya Murata, and Atsumasa Uchida. "Thoracic Myelopathy With Alkaptonuria." Spine 33, no. 2 (January 2008): E62—E65. http://dx.doi.org/10.1097/brs.0b013e31816046ea.

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39

Odabas, Ali Riza, Ali Karakuzu, Yilmaz Selcuk, Teoman Erdem, and Ramazan Cetinkaya. "Alkaptonuria: A Case Report." Journal of Dermatology 28, no. 3 (March 2001): 158–60. http://dx.doi.org/10.1111/j.1346-8138.2001.tb00111.x.

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40

Gehrig, A., S. R. Schmidt, C. R. Müller, S. Srsen, K. Srsnova, and W. Kress. "Molecular defects in alkaptonuria." Cytogenetic and Genome Research 76, no. 1-2 (1997): 14–16. http://dx.doi.org/10.1159/000134501.

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41

Thimmapuram, Rashmi, W. Patricia Bandettini, Sujata M. Shanbhag, Jeannie H. Yu, Kevin J. O'Brien, William A. Gahl, Wendy J. Introne, and Marcus Y. Chen. "Aortic distensibility in alkaptonuria." Molecular Genetics and Metabolism 130, no. 4 (August 2020): 289–96. http://dx.doi.org/10.1016/j.ymgme.2020.05.006.

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42

Phornphutkul, Chanika, Wendy J. Introne, Monique B. Perry, Isa Bernardini, Mark D. Murphey, Diana L. Fitzpatrick, Paul D. Anderson, et al. "Natural History of Alkaptonuria." New England Journal of Medicine 347, no. 26 (December 26, 2002): 2111–21. http://dx.doi.org/10.1056/nejmoa021736.

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43

M B, Adarsh, Saket Jha, Preksha Dwivedi, and Sanjay Jain. "A Mistaken Identity—Alkaptonuria." JCR: Journal of Clinical Rheumatology 26, no. 5 (April 23, 2019): e147-e148. http://dx.doi.org/10.1097/rhu.0000000000001044.

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44

Kamoun, P., M. Coude, M. Forest, X. Montagutelli, and J. L. Guenet. "Ascorbic acid and alkaptonuria." European Journal of Pediatrics 151, no. 2 (February 1992): 149. http://dx.doi.org/10.1007/bf01958966.

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Lok, Zoe S. Y., Jacob Goldstein, and Julian A. Smith. "Alkaptonuria-Associated Aortic Stenosis." Journal of Cardiac Surgery 28, no. 4 (July 2013): 417–20. http://dx.doi.org/10.1111/jocs.12129.

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46

Pettit, Stephen J., Michael Fisher, James A. Gallagher, and Lakshminarayan R. Ranganath. "Cardiovascular manifestations of Alkaptonuria." Journal of Inherited Metabolic Disease 34, no. 6 (April 20, 2011): 1177–81. http://dx.doi.org/10.1007/s10545-011-9339-z.

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47

Cox, Timothy M. "Alkaptonuria: treasure your exceptions." Journal of Inherited Metabolic Disease 34, no. 6 (September 22, 2011): 1113–14. http://dx.doi.org/10.1007/s10545-011-9385-6.

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48

Mori, Yotaro, Noriyuki Takashima, Shunta Miwa, Yuji Matsubayashi, Naoshi Minamidate, Masahide Enomoto, Kenichi Kamiya, and Tomoaki Suzuki. "Aortic Stenosis with Alkaptonuria." Japanese Journal of Cardiovascular Surgery 51, no. 6 (November 15, 2022): 350–53. http://dx.doi.org/10.4326/jjcvs.51.350.

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49

Liu, Wendy, and Richard A. Prayson. "Dura Mater Involvement in Ochronosis (Alkaptonuria)." Archives of Pathology & Laboratory Medicine 125, no. 7 (July 1, 2001): 961–63. http://dx.doi.org/10.5858/2001-125-0961-dmiioa.

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Abstract Clinical manifestations of alkaptonuria have been well described and are most commonly characterized by ochronosis or pigmentation of connective tissue. Sites most commonly involved in ochronosis include joints, heart, skin, and kidney. We describe a 66-year-old woman with a history of alkaptonuria who had widespread ochronosis. The dura mater showed extensive pigment deposition, which was evident both grossly and microscopically at autopsy. To our knowledge, description of dura mater involvement by ochronosis has not been previously reported in the literature.

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50

Rathore, Farooq A., Saeed B. Ayaz, and Sahibzada N. Mansoor. "Ochronotic Arthropathy: Two Case Reports from a Developing Country." Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders 9 (January 2016): CMAMD.S31560. http://dx.doi.org/10.4137/cmamd.s31560.

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Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is due to the lack of an enzyme homogentisate 1,2-dioxygenase, which results in an accumulation of homogentisic acid in different areas of the body, including sclera, skin, cardiac valves, articular cartilage of the large joints and intervertebral disks. We present two cases of alkaptonuria resulting in ochronotic arthropathy with advanced secondary generalized osteoarthritis, intervertebral disk calcifications, skin and scleral pigmentation. In these case reports, both patients had symptoms for >10 years before being diagnosed. Conservative management in the form of high-dose ascorbic acid, exercises, and gait aids was offered to both of them, which resulted in some symptomatic improvement in the first case, while the second case was lost to follow-up. Alkaptonuria is a rare disease, and although it does not clearly impact mortality, early diagnosis may improve the quality of life.

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Journal articles on the topic 'Alkaptonuria'

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