Simple colour reaction for alkaptonuria.

Valmikinathan, K.; Verghese, Ninan

doi:10.1136/jcp.19.2.200

Cited by 13 publications

(4 citation statements)

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“…Copper sulfate test [3] showed characteristic pinkish colouration of urine. Urine was also sent for homogentisic acid estimation and the sample was forwarded to Mumbai for the same.…”

Section: Rajiv Ranganath Sanji Konappa E Reddy Chandrakiran Channegmentioning

confidence: 99%

Alkaptonuria: Otolaryngologic clues to diagnosis

2011

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Alkaptonuria is a rare inborn error of metabolism due to the deficiency of the enzyme homogentisic acid oxidase. It presents clinically by blackish discoloration of the cartilages and collagen-containing structures of the body. There may be blackish or brown discoloration of the auricles, tympanic membrane and other areas of the head and neck. Although the initial clinical manifestation is of multiple-joint pathology, it may be diagnosed only due to characteristic black discoloration of the urine. Here we present a case of ochronosis due to alkaptonuria which had a long undiagnosed course. A 56-year-old male patient was referred to us for evaluation of nodules of the pinna. He was found to have characteristic clinical features of ochronosis. The final diagnosis was difficult and the clinical findings in the head and neck aided in supporting it. This case highlights the role of the ENT specialist in the diagnosis of this disease, the pitfalls and difficulties in diagnosis and the diagnostic dilemmas.

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“…Copper sulfate test [3] showed characteristic pinkish colouration of urine. Urine was also sent for homogentisic acid estimation and the sample was forwarded to Mumbai for the same.…”

Section: Rajiv Ranganath Sanji Konappa E Reddy Chandrakiran Channegmentioning

confidence: 99%

Alkaptonuria: Otolaryngologic clues to diagnosis

2011

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“…Mounting evidence suggests that neuroinflammation is involved in the pathophysiology of neurodegenerative diseases such as AD, a condition characterized by Aβ accumulation and tau phosphorylation [11][12][13]. The immunological sensor nucleotide-binding domain and leucine-rich repeat (NLR) pyrin domain-containing 3 (NLRP3) inflammasome is a key mediator of AD development [14,15].…”

Section: Systemic Inflammationmentioning

confidence: 99%

Alzheimer’s disease in elderly COVID-19 patients: potential mechanisms and preventive measures

Wang

Lü²,

Zhao³

et al. 2021

Neurol Sci

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Advanced age correlates with higher morbidity and mortality among patients affected with the novel coronavirus disease 2019 (COVID-19). Because systemic inflammation and neurological symptoms are also common in severe COVID-19 cases, there is concern that COVID-19 may lead to neurodegenerative conditions such as Alzheimer’s disease (AD). In this review, we summarize possible mechanisms by which infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of COVID-19, may cause AD in elderly COVID-19 patients and describe preventive measures to mitigate risk. Potential mechanisms include NLRP3 inflammasome activation and IL-1β release, renin-angiotensin system hyperactivation, innate immune activation, oxidative stress, direct viral infection, and direct cytolytic β-cell damage. Anti-inflammatory therapies, including TNF-α inhibitors and nonsteroidal anti-inflammatory drugs, antioxidants such as the vitamin E family, nutritional intervention, physical activity, blood glucose control, and vaccination are proposed as preventive measures to minimize AD risk in COVID-19 patients. Since several risk factors for AD may converge during severe SARS-CoV-2 infection, neurologists should be alert for potential symptoms of AD and actively implement preventive measures in patients presenting with neuropsychiatric symptoms and in high-risk patients such as the elderly.

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“…N-butanol extraction test and 6. Thin layer Chromatography was performed on urine, all above biochemical tests exhibited positive results [10,11], Table 1.…”

Section: Radiological and Laboratory Resultsmentioning

confidence: 99%

Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka

Trivedi

Naik

2015

Ind J Clin Biochem

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Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis. After considering clinical finding, report of radiological investigation and Biochemical test results, patient was diagnosed as a case of Alkaptonuria. Screening of entire family revealed a typical case of familial inheritance. Hidden familial inheritance can be disclosed by mass screening of families and medical awareness.

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Simple colour reaction for alkaptonuria.

Cited by 13 publications

References 0 publications

Alkaptonuria: Otolaryngologic clues to diagnosis

Alkaptonuria: Otolaryngologic clues to diagnosis

Alzheimer’s disease in elderly COVID-19 patients: potential mechanisms and preventive measures

Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka

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