Five Cases of Alkaptonuria Among Two Generations of Single Family in Dharwad, Karnataka (India)

Trivedi, Dhiraj J.; Haridas, Vikram

doi:10.1007/s12291-015-0488-y

Cited by 4 publications

(13 citation statements)

References 6 publications

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“…1,2,4,5,[7][8][9] The urine tends to turn dark on prolonged exposure to air and there is history of dark staining of nappies in childhood. 1,4,[6][7][8][9] The reducing properties of urine when an alkali was added to an affected patient urine sample caused darkening of the urine. 4 Higher frequency is seen in Slovakia, Santo Domingo and certain middle east countries, where incidence approaches 19-25 per 500,000 inhabitants and elsewhere 1 per 10 million.…”

Section: Discussionmentioning

confidence: 99%

“…Alkaptonuria is a rare metabolic disorder of autosomal recessive inheritance, resulting from deficiency of homogentisic acid oxidase enzyme in the metabolism of phenylalanine and tyrosine. [1][2][3][4][5][6][7][8][9][10] The incidence is 1 in 25,000 to 1 in 1,000,000 individuals. 1,4,[6][7][8][9][10] Homogentisic acid undergoes oxidation to form a brown black pigment, which results in the characteristic cola colored urine.…”

Section: Introductionmentioning

confidence: 99%

“…[1][2][3][4][5][6][7][8][9][10] The incidence is 1 in 25,000 to 1 in 1,000,000 individuals. 1,4,[6][7][8][9][10] Homogentisic acid undergoes oxidation to form a brown black pigment, which results in the characteristic cola colored urine. 1 In infancy, complain of dark staining of nappies may be present.…”

Section: Introductionmentioning

confidence: 99%

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Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report

Tomar¹,

Govil²,

Dhawan³

2020

IJOR

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Low back pain is one of the commonest symptoms for an orthopaedic consultation. It is also the common first presentation of a rare disorder alkaptonuria. Accumulation of homogentisic acid in connective tissues causes progressive deposition of bluish black pigment causing degenerative changes in ochronotic spine. In this case report, two brothers of Dravidian origin present with alkaptonuria, with clinically more recognizable axial spondyloarthropathy resembling Ankylosing Spondylitis (AS), and the history, clinical presentation, diagnostic techniques, and distinctive diagnosis are reviewed. We suggest for surveillance in clinical practice for this rare, but important cause of back pain.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report

Tomar¹,

Govil²,

Dhawan³

2020

IJOR

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“…Though few scattered cases have been reported from India, but this seems to be a tip of the iceberg for the prevalence of this disease in India [4][5][6][7][8][9]. We report a second case of the AKU Family from Hangarki village of Dharwad District having multiple sufferers due to inheritance.…”

Section: Introductionmentioning

confidence: 95%

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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“…6 Though there is a lack of such systemic survey, few scattered cases have been reported from various parts of India. [7][8][9][10][11] Localised higher incidence of AKU among Romani community at Vellore, Tamil Nadu 12 and Dharwad district of Karnataka 13,14 are reported from South India.…”

Section: Introductionmentioning

confidence: 99%

Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review

Trivedi¹

2020

IJCBR

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Alkaptonuria is a rare error in tyrosine metabolism. Due to genetic variants severity of disease vary. Lack of local expertise and difficulty in detection of AKU has been expressed in literature. Onset of clinical symptoms and ochronosis starts before adult age but timely detection at paediatric age is useful in prevention of ochronotic arthropathy.Objective of this technical review is to provide simple, quick and precise chemical methods with reagent and technical details so as to detect HGA in urine at every primary health care setups to pick up AKU at early age. Present technical review explains eight precise, time tested, simple and effective chemical methods. They are technically less demanding and can be used at primary centre to even at bed side clinics. Review may increase screening of the disease by medical practitioners and may encourage budding researchers to contribute in creating data base for prevalence of AKU in India.

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Five Cases of Alkaptonuria Among Two Generations of Single Family in Dharwad, Karnataka (India)

Cited by 4 publications

References 6 publications

Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report

Alkaptonuria presenting as ochronotic spondylo-arthropathy in siblings with low back pain: a case report

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

Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review

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