Alkaptonuria with review of literature

Reddy, Onteddu Joji; Gafoor, Jamkhana Abdul; Suresh, Balla; Prasad, Polysetty Obuleswar

doi:10.4103/2277-8632.134884

Cited by 7 publications

(6 citation statements)

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“…Alkaptonuria is a rare disorder of aromatic amino acid metabolism that has a Mendelian recessive inheritance pattern (1). The intracellular and extracellular accumulation of HGA, which plays an important role in phenylalanine and tyrosine metabolism, leads to this disorder (8).…”

Section: Discussionmentioning

confidence: 99%

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Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Gündüz¹,

Üstün²,

Şan³

et al. 2020

tjgeri

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Alkaptonuria is a hereditary and metabolic disease which is characterised by ocranosis, arthritis and aciduria. It is a rare clinical condition which has an estimated incidence varies from 1/ 250,000 to 1/1000000 live births. This autosomal recessive disorder occurs as a result of homogentisic acid dioxygenase enzyme deficiency which takes part in tyrosine metabolism. This case report aimed to present a geriatric patient who had diagnosed alkaptonuria. A 69 years old male was admitted to our department with knee-shoulder pain and range of motion (ROM) limitation. His medical history revealed that he had both mechanical and inflammatory joint pain for 22 years. The examination of his eyes were compatible with blue sclera and there was also bluish black discoloration on the ears. He had also hearing loss. Qualitative 24 hours collected urine examination showed dark black discoloration. The patient was diagnosed as alkaptonuria. A physical therapy programme were planned to the patient by our department. Clinicians should be aware of this pathology and the diagnosis should be confirmed by clinical, laboratory and radiological examinations.

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Section: Discussionmentioning

confidence: 99%

“…Alkaptonuria is a hereditary and metabolic disease that is characterized by ochronosis, arthritis, and aciduria (1). The disease was described by Garrod in 1902 (2).…”

Section: Introductionmentioning

confidence: 99%

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Gündüz¹,

Üstün²,

Şan³

et al. 2020

tjgeri

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“…The term "alcapton" was first used in 1859 by Boedecke. In the year 1908, Garrod coined the term "inborn error of metabolism" and stated that alkaptonuria occurs due to an enzyme deficiency [1]. It is a rare inherited genetic disorder of tyrosine metabolism characterized by the triad of homogentisic aciduria, ochronosis and arthritis.…”

Section: Discussionmentioning

confidence: 99%

Osler’s Sign-The Hidden Clue

Anubhav¹

2018

MSOR

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A 55-year-old male patient presented to the ophthalmology department for routine ocular examination. There was no ocular complaint nor there was a history of any previous ophthalmic consultation. The patient gave a history of having chronic back ache with pains in both his knees and was receiving non-steroidal antiinflammatory drugs from some other institute. There was no other significant medical, surgical, family, traumatic or drug abuse history.Ocular examination was carried out and his visual acuity was 6/6 in both the eyes; pupillary reactions, ocular movements, colour vision, fundus and intraocular pressure were normal bilaterally. Slit lamp and torch examination revealed bluish-black dots on the cornea, conjuctiva and sclera in the interpalpebral area bilaterally close to the medial and lateral rectus muscles (Figure 1). Dilated conjunctival vessels were seen to be supplying the pigmented areas. There were also pigmentary changes seen on his hands (Figure 2).

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“…8 So far 67 genetic missense mutations of AKU gene have been identified. 9 This metabolic disorder is prevalent worldwide, with case reports from USA, UK, Germany, Lebanon, Sudan, Saudi Arabia, Pakistan, Turkey and India. 10 As per literature 626 cases has been reported from all over the world till 2011.…”

Section: A=100x B=40xmentioning

confidence: 99%

“…Universal calcified discs and osteoporosis in young individuals is the pathognomic X-ray change seen in AKU. 9 Proposed mechanisms implicated in pathogenesis of ochronotic arthropathy include chemical irritation by HGA and its oxidation products, disturbed metabolism of chondrocytes and alteration of cross linkage of collagen fibrils.…”

Section: A=100x B=40xmentioning

confidence: 99%

Skin pigmentation, a window to diagnose Alkaptonuria: a very rare entity

et al. 2017

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Alkaptonuria (AKU) or endogenous ochronosis is a very rare inborn error of tyrosine metabolism inherited by autosomal recessive mode. There is complete absence of homogentisic acid oxidase enzyme which results in accumulation of homogentisic acid in cartilaginous connective tissue thus produces ochronotic clinical manifestations. Here we reported a 36 year old woman with bluish pigmentation of pinnae, index fingers (lateral aspect), nails, teeth and sclera. Detailed clinical and investigative workup was done to diagnose patient. Skin biopsy showed changes of ochronosis and urine examination revealed detectable level of homogentisic acid. Classical ocular findings, ochronosis on clinical and HPE and positive urinary tests for homogentisic acid confirmed the diagnosis of alkaptonuria. The highlight of our case is that an asymptomatic patient was detected early by ochronosis prior to development of musculoskeletal or cardiac complications.

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Alkaptonuria with review of literature

Cited by 7 publications

References 0 publications

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Alkaptonuria Diagnosed in a Geriatric Patient; A Case Report

Osler’s Sign-The Hidden Clue

Skin pigmentation, a window to diagnose Alkaptonuria: a very rare entity

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