Control of alkaptonuria with nitisinone and gene therapy: A systematic review

Nelwan, Martin

doi:10.33472/afjbs.3.1.2021.19-33

Cited by 8 publications

(17 citation statements)

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“…However, AKU has a high prevalence in China (Bhattar et al, 2015), the Dominican Republic, Jordan, parts of South India (Nelwan, 2013), Singapore (Bhattar et al, 2015), Slovakia (Nelwan, 2013), and Thailand (Bhattar et al, 2015). In Slovakia, the prevalence is one in 19,000 (Genetics Home Reference, 2019b;and Nelwan, 2013). The prevalence in China, Jordan, the Dominican Republic, India, Singapore, and Thailand are unknown.…”

Section: Alkaptonuria On the Globementioning

confidence: 99%

“…Of the 27 males who were 31 to 36 years, eight were prostate stones. The development of prostate stones did not have an association with the development of kidney stones (NCBI ClinVar; Nelwan, 2013;and Phornphutkul, 2002). Kidney stones occur by 64 years old in 50% of individuals with AKU (Introne and Gahl, 2019).…”

Section: Alkaptonuria On the Globementioning

confidence: 99%

“…AKU is the first disease that in accordance with the law of segregation. Mutations in the HGD gene result in this disorder ((Genetics Home Reference, 2019a;and Nelwan, 2013). AKU affects about one in 100,000 to 250,000 (Masoud et al, 2017) or one in 200,000 to one in 1,000,000 live births (Couto et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

“…Symptoms of AKU include arthropathy of major joints, calcifications of cartilaginous tissue with dark color, deterioration of cardiac valves (Gupta et al, 2017;Karaoðlu et al, 2016;and Nelwan, 2013), and pigmentation of ears, sclera (Rana et al, 2015), eyes, and skin (Atalay et al, 2015). No definite cure for AKU is available (Gupta et al, 2017;Karao ğ lu et al, 2016;and Nelwan, 2013). Vitamin C may be used.…”

Section: Introductionmentioning

confidence: 99%

“…It may be beneficial for treating AKU. Nitisinone reduces circulating of HGA (Milan et al, 2019;and Nelwan, 2013). However, nitisinone is not yet licensed for use in AKU patients.…”

Section: Introductionmentioning

confidence: 99%

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Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Nelwan

2019

SSRN Journal

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Section: Alkaptonuria On the Globementioning

confidence: 99%

Section: Alkaptonuria On the Globementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…It may be beneficial for treating AKU. Nitisinone reduces circulating of HGA (Milan et al, 2019;and Nelwan, 2013). However, nitisinone is not yet licensed for use in AKU patients.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Nelwan

2019

SSRN Journal

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Treatment of Achilles tendon rupture in a patient with alkaptonuric ochronosis

Kryukov,

Bel’skikh,

Khominets

et al. 2024

Bulletin of the Russian Military Medical Academy

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The treatment result of a patient with spontaneous rupture of the Achilles tendon and features of diagnosing alkaptonuric ochronosis, a rare disease, are presented, providing doctors beneficial information for the prevention and/or delay of possible complications. On March 8, 2021, at about 20:50, while at his workplace, getting up from his chair from the table, patient K, 52 years old, felt a sharp pain in the lower third of his right shin and was urgently taken to the hospital. He was examined by a traumatologist and was initially diagnosed with rupture of the right Achilles tendon. His right lower limb was immobilized with a plaster splint. On March 11, 2021, he entered the military traumatology and orthopedics clinic of the Kirov Military Medical Academy for surgical treatment. Upon admission, the patient complained of pain in the right lower leg and impaired support function of the right lower limb. Based on complaints, medical history, laboratory results, and instrumental studies, subcutaneous rupture of the right Achilles tendon was diagnosed. On March 12, 2021, anchor suture of the right Achilles tendon was performed. Anesthesia — combined, access: two separate incisions on the posterior surface of the lower third of the right leg and in the area of the calcaneal tubercle, each 5 cm long, intraoperatively revealed a complete subcutaneous rupture of the right Achilles tendon. Notably, the tendon was black in color when cut. The postoperative period proceeded without complications, and postoperative wounds of linear shape in the right Achilles tendon healed by primary intention. No signs of disturbances were observed in peripheral circulation and innervation of the right lower limb. To confirm the diagnosis, a simple laboratory test was performed: a change in the color of urine during the day, after its additional alkalization. The color change is due to the polymerization of homogentisic acid, which is excreted in large quantities in the urine. To verify the diagnosis, a molecular genetic technique was performed: sequencing of the clinically significant HGD gene and encoding the enzyme homogentisate-1,2-dioxygenase, which are mutations that lead to alkaptonuria. The analysis results confirmed the presence of an amino acid substitution at the pGLy161Arg position, indicating pathogenicity. The use of simple methods of additional laboratory diagnostics and molecular genetic analysis enabled the diagnosis of alkaptonuric ochronosis. Thus, characteristic diagnostic signs were damage to the Achilles tendon in combination with the obtained anamnestic, clinical, and laboratory data of alkaptonuria.

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Schistosomiasis in Sulawesi, Indonesia

Nelwan

2019

SSRN Journal

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Control of alkaptonuria with nitisinone and gene therapy: A systematic review

Cited by 8 publications

References 0 publications

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review

Treatment of Achilles tendon rupture in a patient with alkaptonuric ochronosis

Schistosomiasis in Sulawesi, Indonesia

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